CDE Detailed Report

Disease: Myasthenia Gravis
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: Mutation Analysis

Displaying 1 - 39 of 39
CDE ID CDE Name Variable Name Definition Short Description Additional Notes (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 / Guideline) Sub Domain Name Domain Name Size Input Restrictions Min Value Max Value Measurement Type External Id Loinc External Id Snomed External Id caDSR External Id CDISC
C12944 Mutational analysis performed indicator MutAnlysisPerfInd Whether the mutational analysis was performed on the participant/subject Whether the mutational analysis was performed on the participant/subject Mutational analysis performed on the participant/subject Yes;No Yes;No Alphanumeric

Choose one

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

C12788 Gene exon copy number tested indicator GeneExonCopyNumTestInd Whether the copy number was directly tested for all exons 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

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one.

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

C12800 Gene point mutation insertion deletion type GenePointMutInsertDelTyp The insertion deletion type of the point mutation The insertion deletion type of the point mutation Insertion Deletion: Deletion;Insertion;Insertion/Deletion Deletion;Insertion;Insertion/Deletion Alphanumeric

Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected. Choose one.

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

C17889 Gene point mutation location exon text GenePointMutLocExonTxt Text about point mutation at the exon Text about point mutation at the exon Exon (Point Mutation): 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

C12789 Gene deletions duplications limits clearly defined indicator GeneDelDupLimClearlyDefInd Whether the limits of deletions and duplications are defined 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

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one.

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

C12801 Gene point mutation nonsense codon type GenePointMutNonsenseCodonTyp Type of nonsense point mutation Type of nonsense point mutation Nonsense Type: UAA;UAG;UGA;Not applicable UAA;UAG;UGA;Not applicable Alphanumeric

Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected. Choose one.

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

C17890 Allele number one point mutation subclass information AlleleNumOnePoMutLocSubInfTyp Type of point mutation subclass information, first allele number one Type of point mutation subclass information, first allele Point mutation subclass information: Insertion Deletion;Nonsense Type Insertion Deletion;Nonsense Type 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

C12790 Gene exon first deleted duplicated name GeneExonFirstDelDupName Identify first exon deleted or duplicated Identify first exon deleted or duplicated First Deleted/Duplicated Exon: Alphanumeric

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected and the limits of deletions and duplications are completely defined.

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

C12802 Gene mutation mRNA analysis performed indicator GeneMRNAAnlysisPerfInd Whether messenger ribonucleic acid (mRNA) analysis was performed Whether messenger ribonucleic acid (mRNA) analysis was performed mRNA analysis performed: Yes;No;Unknown Yes;No;Unknown Alphanumeric

Answered for Allele #1 and Allele #2 (if applicable). Choose one.

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

C17891 Gene additional variants unknown significance text GeneAddVarUnkSignfcnceTxt Text about additional variants in other genes of unknown significance Text about additional variants in other genes of unknown significance If yes, indicate: 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

C12791 Gene exon last deleted duplicated name GeneExonLstDelDupName Identify exon last deleted or duplicated Identify exon last deleted or duplicated Last Deleted/Duplicated Exon: Alphanumeric

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected and the limits of deletions and duplications are completely defined.

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

C12803 Gene mutation implications confirmed mRNA analysis indicator GeneMutImpConMRNAAnlysisInd Whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis Whether the mRNA analysis confirmed implications of genetic analysis If yes, were implications confirmed: Yes;No Yes;No Alphanumeric

Only answered if Yes was answered for "mRNA analysis performed?" for the allele. Choose one.

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

C17893 Gene point mutation location other text GenePointMutLocOtherTxt Text about point mutation at locations other than the exon and intron Text about point mutation at locations other than the exon and intron Other: 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

C12690 Gene name GeneName Name of the gene analyzed Name of the gene analyzed Gene name Alphanumeric

Answer for Allele #1 and Allele #2 (if applicable)

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

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

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one.

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

C12804 Gene cDNA mutation name GeneCDNAMutName The Human Genome Organisation (HUGO) mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) mutation The Human Genome Organisation (HUGO) mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) mutation cDNA: Alphanumeric

Only answered if Yes was answered for "mRNA analysis performed?" for the allele.

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

C17894 Gene point mutation location intron text GenePointMutLocIntronTxt Text about point mutation at the intron Text about point mutation at the intron Intron: 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

C12782 Gene additional variants unknown significance indicator GeneAddVarUnknownSignfcnceInd Whether there are additional variants in other genes of unknown significance Whether there are additional variants in other genes of unknown significance Are there additional variants in other genes of unknown significance? Yes;No Yes;No Alphanumeric

Choose one

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

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

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one.

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

C12805 Gene mRNA mutation name GeneMRNAMutName The Human Genome Organisation (HUGO) mutation nomenclature of the messenger ribonucleic acid (mRNA) mutation The Human Genome Organisation (HUGO) mutation nomenclature of the messenger ribonucleic acid (mRNA) mutation mRNA: Alphanumeric

Only answered if Yes was answered for "mRNA analysis performed?" for the allele.

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

C17895 Genes sequenced with no mutations text GeneSeqNoMutationsTxt Text about additional genes sequenced with no mutations detected Text about additional genes sequenced with no mutations detected If yes, indicate: 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

C12783 Mutational analysis results available indicator MutAnlysisResltsAvailInd Whether the mutational analysis results are available on this participant/ subject Whether the mutational analysis results are available on this participant/ subject Mutational analysis results available on this participant/subject: Yes;No Yes;No Alphanumeric

If no answered, stop completing form.

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

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

Answer for Allele #1/Allele #2 if a subexonic insertion/deletion was detected. Choose one.

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

C12806 Gene protein mutation name GeneProteinMutName The Human Genome Organisation (HUGO) mutation nomenclature of the protein mutation The Human Genome Organisation (HUGO) mutation nomenclature of the protein mutation Protein: Alphanumeric

Only answered if Yes was answered for "mRNA analysis performed?" for the allele.

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

C17896 Mutational analysis not performed reason MutAnlysisNotPerfRsn Why the mutational analysis was not performed Why the mutational analysis was not performed If no, provide explanation 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

C12784 Mutational analysis performed family member indicator MutAnlysisPerfFamMemberInd Whether the mutational analysis was performed on a family member Whether the mutational analysis was performed on a family member If no, was mutational analysis performed on a family member? Yes;No Yes;No Alphanumeric

Answer if mutation analysis was not performed on participant/subject. Choose one. If No, provide explanation.

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

C12795 Gene coding region sequenced indicator GeneCodingRegionSeqInd Whether the entire coding region for point mutations or pseudoexons was sequenced for the allele of the gene Whether the entire coding region for point mutations or pseudoexons was sequenced for the allele of the gene Was the entire coding region sequenced: Yes;No Yes;No Alphanumeric

Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected. Choose one.

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

C12807 Gene second disease allele indicator GeneSecondDiseaseAlleleInd Whether a second disease allele was identified Whether a second disease allele was identified Was a second disease allele identified? Yes;No Yes;No Alphanumeric

If no answered, stop completing form.

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

C12785 Gene mutation detected result type GeneMutDetectedResltTyp Type of gene mutation detected Type of gene 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.

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

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.

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C12796 Gene targeted mutational analysis indicator GeneTargetedMutAnlysisInd Whether mutational analysis was targeted at a particular mutation Whether mutational analysis was targeted at a particular mutation Targeted mutational analysis only: Yes;No Yes;No Alphanumeric

Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected. Choose one.

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

C12808 Gene sequenced with no mutations indicator GeneSeqNoMutationsInd Whether there are additional genes sequenced with no mutations detected Whether there are additional genes sequenced with no mutations detected Are there additional genes sequenced with no mutations detected? Yes;No Yes;No Alphanumeric

Choose one

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

C12786 Allele identifier AlleleID Identifies which allele the associated data describe Identifies which allele the associated data describe Allele specific information Allele #1;Allele #2 Allele #1;Allele #2 Alphanumeric

Choose one

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Mutation Analysis Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C18874 Gene mutation other text GeneMutationOTH The free-text field related to 'Gene mutation category' specifying other text. Category of the mutation detected on the gene The free-text field related to 'Gene mutation category' specifying other text. Category of the mutation detected on the gene Other, specify Alphanumeric

Answered for Allele #1 and Allele #2. Choose all that apply.

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 4000

Free-Form Entry

C12797 Gene targeted mutational analysis type GeneTarMutAnlysisTyp Type of targeted mutational analysis performed for the gene Type of targeted 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

Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected and if Yes is answered for "Targeted mutational analysis only?"

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

C12818 Gene second allele identical indicator GeneSecondAlleleIdenticalInd Whether allele #2 is identical to allele #1 Whether allele #2 is identical to allele #1 Is allele # 2 identical to allele # 1 (Homozygous only): Yes;No Yes;No Alphanumeric

Answer if homozygous only; if yes answered, stop completing form

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

C12787 Gene mutation category GeneMutationCat Category of the mutation detected on the gene Category of the 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

Answered for Allele #1 and Allele #2. Choose all that apply.

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

Multiple Pre-Defined Values Selected

C18875 Gene targeted mutational analysis other text GeneTarMutAnlysisOTH The free-text field related to 'Gene targeted mutational analysis type' specifying other text. Type of targeted mutational analysis performed for the gene The free-text field related to 'Gene targeted mutational analysis type' specifying other text. Type of targeted mutational analysis performed for the gene Other, specify Alphanumeric

Answer for Allele #1/Allele #2 if a point mutation or pseudoexon was detected and if Yes is answered for "Targeted mutational analysis only?"

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 4000

Free-Form Entry

C12798 Gene point mutation location type GenePointMutLocTyp Type of location of the point mutation Type of location of the point mutation Point mutation location: Exon (point mutation);Intron;Other Exon (point mutation);Intron;Other Alphanumeric

Choose one

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

CSV