CDE Detailed Report
Disease: content
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: welcome
Displaying 1 - 36 of 36
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: welcome
Displaying 1 - 36 of 36
| CDE ID | CDE Name | Variable Name | Definition | Short Description | Question Text | Permissible Values | Description | Data Type | Disease Specific Instructions | Disease Specific Reference | Population | Classification (e.g., Core) | Version Number | Version Date | CRF Name (CRF Module / Guidance) | Subdomain Name | Domain Name | Size | Input Restrictions | Min Value | Max Value | Measurement Type | External Id Loinc | External Id Snomed | External Id caDSR | External Id CDISC |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C12788 | Gene exon copy number tested indicator | GeneExonCopyNumTestInd | Indicator of whether the copy number was directly tested for all exons | Indicator of whether the copy number was directly tested for all exons | Was the copy number directly tested for all exons? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:49.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12800 | Gene missense nonsense variant point mutation insertion deletion type | GeneMsNsVrPntMutInsertDelTyp | Type of the insertion deletion of the missense/nonsense variant or point mutation | Type of the insertion deletion of the missense/nonsense variant or point mutation | Insertion Deletion: | Deletion;Insertion;Insertion/Deletion | Deletion;Insertion;Insertion/Deletion | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:55:00.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17890 | Allele number one missense nonsense variant or point mutation subclass information type | AlleleNm1MNsVrOrPoMtLcSbIfTyp | Type of missense/nonsense variant or point mutation subclass information, first allele number one | Type of missense/nonsense variant or point mutation subclass information, first allele number one | Point mutation subclass information: | Insertion Deletion;Nonsense Type | Insertion Deletion;Nonsense Type | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.10 | 2022-07-27 11:11:15.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12789 | Gene deletions duplications limits clearly defined indicator | GeneDelDupLimClearlyDefInd | Indicator of whether the limits of deletions and duplications are defined | Indicator of whether the limits of deletions and duplications are defined | Are the limits of deletions and duplications completely defined? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:50.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12801 | Gene point mutation nonsense variant codon type | GenePointMutNonsenseVrCodonTyp | Type of nonsense variant or point mutation | Type of nonsense variant or point mutation | Nonsense Type: | UAA;UAG;UGA;Not applicable | UAA;UAG;UGA;Not applicable | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:55:00.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17893 | Gene missense nonsense variant point mutation location other text | GeneMsNsVrPntMutLocOtherTxt | The free-text field about missense/nonsense variant or point mutation at locations other than the exon and intron | The free-text field about missense/nonsense variant or point mutation at locations other than the exon and intron | Other: | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:59.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12790 | Gene exon first deleted duplicated name | GeneExonFirstDelDupName | Name of the first exon deleted or duplicated | Name of the first exon deleted or duplicated | First Deleted/Duplicated Exon: | Alphanumeric |
Supplemental-Highly Recommended |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:51.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12802 | Gene variant mutation mRNA analysis performed indicator | GeneVarMutMRNAAnlysisPerfInd | Indicator of whether messenger ribonucleic acid (mRNA) analysis was performed | Indicator of whether messenger ribonucleic acid (mRNA) analysis was performed | mRNA analysis performed: | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:55:01.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17894 | Gene missense nonsense variant point mutation location intron text | GeneMsNsVrPntMutLocIntronTxt | The free-text field about missense/nonsense variant or point mutation at the intron | The free-text field about missense/nonsense variant or point mutation at the intron | Intron: | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:59.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12791 | Gene exon last deleted duplicated name | GeneExonLstDelDupName | Name of the exon last deleted or duplicated | Name of the exon last deleted or duplicated | Last Deleted/Duplicated Exon: | Alphanumeric |
Supplemental-Highly Recommended |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:52.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12803 | Gene variant mutation implications confirmed mRNA analysis indicator | GeneVrrMutImpConMRNAAnlyssInd | Indicator of whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis | Indicator of whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis | If yes, were implications confirmed: | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:55:02.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17896 | Variant mutational analysis not performed reason | VarMutAnlysisNotPerfRsn | Reason for why the mutational analysis was not performed | Reason for why the mutational analysis was not performed | If no, provide explanation | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:38.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12792 | Gene whole deletion indicator | GeneWholeDelInd | Whether the entire gene was deleted | Whether the entire gene was deleted | Whole gene deletion? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12804 | Gene cDNA variant mutation name | GeneCDNAVarMutName | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation | cDNA: | Alphanumeric |
Supplemental-Highly Recommended |
No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:55:02.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C18262 | Family history gene mutation indicator | FmlyHistGeneMutInd | Indicator for which side of the family the gene mutation comes from | Indicator for which side of the family the gene mutation comes from | Family History of the trait | Maternal Side;Paternal Side;Both Maternal and Paternal sides;Neither;Unknown | Maternal Side;Paternal Side;Both Maternal and Paternal sides;Neither;Unknown | Alphanumeric |
Supplemental-Highly Recommended |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-21 12:11:21.037 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12690 | Gene name | GeneName | Name of the gene analyzed | Name of the gene analyzed | Gene name | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12793 | Gene exon predicted reading frame type | GeneExonPredReadFrameTyp | Type of predicted reading frame | Type of predicted reading frame | Predicted reading frame: | IN;Out;Unknown | IN;Out;Unknown | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 4.00 | 2024-03-18 15:21:17.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12805 | Gene mRNA variant mutation name | GeneMRNAVarMutName | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation | mRNA: | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:55:03.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C18873 | Gene mutation detected digenic result specify | GeneMutDetectedResltST | The free-text field related to 'Gene mutation detected result type'. Type of gene mutation detected | The free-text field related to 'Gene mutation detected result type'. Type of gene mutation detected | Digenic, specify | Alphanumeric |
If Digenic is answered, record the second mutation. Supplemental-Highly Recommended |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 3.00 | 2013-07-25 08:54:08.2 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12783 | Variant mutational analysis results available indicator | VarMutAnlysisResltsAvailInd | Indicator of whether the variant or mutational analysis results are available on this participant | Indicator of whether the variant or mutational analysis results are available on this participant | Mutational analysis results available on this participant/subject: | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
If no answered, stop completing form. |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:36.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12794 | Gene promoter deletion indicator | GenePromoterDeletionInd | Whether known gene promoters were deleted | Whether known gene promoters were deleted | Are known gene promoters deleted: | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12806 | Gene protein variant mutation name | GeneProteinVarMutName | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation | Protein: | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:55:04.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C18874 | Gene variant mutation category other text | GeneVarMutationCatOTH | The free-text field related to 'Gene variant or mutation category', specifying other text. Category of the variant or mutation detected on the gene | The free-text field related to 'Gene variant or mutation category', specifying other text. Category of the variant or mutation detected on the gene | Other, specify | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:49.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12784 | Variant mutational analysis performed family member indicator | VarMutAnlysisPerfFamMembrInd | Indicator of whether the mutational analysis was performed on a family member | Indicator of whether the mutational analysis was performed on a family member | If no, was mutational analysis performed on a family member? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
Supplemental-Highly Recommended |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:37.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12795 | Gene coding region sequenced indicator | GeneCodingRegionSeqInd | Indicator of whether the entire coding region was sequenced for the allele of the gene for missense/nonsense variant or point mutations or pseudoexons | Indicator of whether the entire coding region was sequenced for the allele of the gene for missense/nonsense variant or point mutations or pseudoexons | Was the entire coding region sequenced: | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:55.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12807 | Gene second disease allele indicator | GeneSecondDiseaseAlleleInd | Indicator of whether a second disease allele was identified | Indicator of whether a second disease allele was identified | Was a second disease allele identified? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
If no answered, stop completing form. |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:55:04.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C18875 | Gene targeted variant mutational analysis other text | GeneTarVarMutAnlysisOTH | The free-text field related to 'Gene targeted variant or mutational analysis type', specifying other text. Type of targeted variant or mutational analysis performed for the gene | The free-text field related to 'Gene targeted variant or mutational analysis type', specifying other text. Type of targeted variant or mutational analysis performed for the gene | Other, specify | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:57.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12785 | Gene variant mutation detected result type | GeneVarMutDetectedResltTyp | Type of gene variant or mutation detected | Type of gene variant or mutation detected | Mutation(s) detected: | Homozygous;Hemizygous;Heterozygous – two alleles identified;Heterozygous – only one allele identified;Digenic (mutations in more than one gene);No mutation detected | Homozygous;Hemizygous;Heterozygous – two alleles identified;Heterozygous – only one allele identified;Digenic (mutations in more than one gene);No mutation detected | Alphanumeric |
If Digenic is answered, record the second mutation. Supplemental-Highly Recommended |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:39.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12796 | Gene targeted variant mutational analysis indicator | GeneTargetedVarMutAnlysisInd | Indicator of whether variant or mutational analysis was targeted at a particular variant or mutation | Indicator of whether variant or mutational analysis was targeted at a particular variant or mutation | Targeted mutational analysis only: | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:55.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12818 | Gene second allele identical indicator | GeneSecondAlleleIdenticalInd | Indicator of whether allele #2 is identical to allele #1 | Indicator of whether allele #2 is identical to allele #1 | Is allele # 2 identical to allele # 1 (Homozygous only): | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
Answer if homozygous only; if yes answered, stop completing form |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:55:05.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12786 | Allele identifier name | AlleleID | Name that identifies which allele the associated data describe | Name that identifies which allele the associated data describe | Allele specific information | Allele #1;Allele #2 | Allele #1;Allele #2 | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 4.00 | 2024-02-29 15:54:47.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12797 | Gene targeted variant mutational analysis type | GeneTarVarMutAnlysisTyp | Type of targeted variant or mutational analysis performed for the gene | Type of targeted variant or mutational analysis performed for the gene | If Yes, type of analysis: | Hot-spot;Known familial mutation;Other, specify | Hot-spot;Known familial mutation;Other, specify | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:56.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12944 | Variant mutational analysis performed indicator | VarMutAnlysisPerfInd | Indicator of whether the variant or mutational analysis was performed on the participant | Indicator of whether the variant or mutational analysis was performed on the participant | Mutational analysis performed on the participant/subject | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
Supplemental-Highly Recommended |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:37.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12787 | Gene variant mutation category | GeneVarMutationCat | Category of the variant or mutation detected on the gene | Category of the variant or mutation detected on the gene | Mutation Class: | Deletion;Duplication;Missense;Nonsense;Potential;Pseudoexon;Splice;Subexonic Insertion/Deletion;Other, specify | Deletion;Duplication;Missense;Nonsense;Potential;Pseudoexon;Splice;Subexonic Insertion/Deletion;Other, specify | Alphanumeric |
Supplemental-Highly Recommended |
No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:48.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12798 | Gene missense nonsense variant point mutation location type | GeneMsNsVrPointMutLocTyp | Type of location of the missense/nonsense variant or point mutation | Type of location of the missense/nonsense variant or point mutation | Point mutation location: | Exon (point mutation);Intron;Other | Exon (point mutation);Intron;Other | Alphanumeric |
Choose one |
No references available | Adult;Pediatric | Supplemental | 4.00 | 2024-02-29 15:54:57.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17889 | Gene missense nonsense variant point mutation location exon text | GeneMsNsVrPointMutLocExonTxt | The free-text field about missense/nonsense variant or point mutation at the exon | The free-text field about missense/nonsense variant or point mutation at the exon | Exon (Point Mutation): | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:58.0 | Mutation Analysis | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
