Cerebral Palsy Research Network Blog

_NINDS CDE


Field Value
CDE ID C12785
CDE Name Gene mutation detected result type
Variable Name GeneMutDetectedResltTyp
Definition

Type of gene mutation detected

Description

Homozygous;Hemizygous;Heterozygous – two alleles identified;Heterozygous – only one allele identified;Digenic (mutations in more than one gene);No mutation detected;

Instructions

If Digenic is answered, record the second mutation.
Supplemental – Highly Recommended

Input Restrictions Single Pre-Defined Value Selected
Permissible Values

Homozygous;Hemizygous;Heterozygous – two alleles identified;Heterozygous – only one allele identified;Digenic (mutations in more than one gene);No mutation detected;

Question Text Mutation(s) detected:
Data Type Alphanumeric
Population Adult, Pediatric
Measurement Type
Field Size
Minimum Value
Maximum Value
Domain Assessments and Examinations
SubDomain Laboratory Tests and Biospecimens/Biomarkers
CRF Module Mutation Analysis
Alias Aliases for variable name not defined
Classification Supplemental–Highly Recommended
Copyright/Trademark
Previous Title Gene mutation detected result
References

No references available

CA DSR ID
CDISC ID
LOINC ID
SNOMED
Version Date 2013-07-25T08:54:08.2
Version Number 3