Gene mutation category

General Details:

Name:
Gene mutation category
Steward:
NINDS
Definition:
Category of the mutation detected on the gene
Registration Status:
Qualified

Permissible Values:

Value Type:
Value List
Unit of Measure:
Ids:
Value Code Name Code Code System Code Description
Deletion Deletion Deletion
Duplication Duplication Duplication
Missense Missense Missense
Nonsense Nonsense Nonsense
Potential Potential Potential
Pseudoexon Pseudoexon Pseudoexon
Splice Splice Splice
Subexonic Insertion/Deletion Subexonic Insertion/Deletion Subexonic Insertion/Deletion
Other, specify Other, specify Other, specify

Designations:

Designation:
Gene mutation category
Tags:
Designation:
Mutation Class:
Tags:
Question Text

Designations:

Definition:
Category of the mutation detected on the gene
Tags:

Identifiers:

Source:
NLM
Id:
rG9ryskZeOz
Version:
3.1
Source:
NINDS
Id:
C12787
Version:
3
Source:
BRICS Variable Name
Id:
GeneMutationCat
Version: