Annotation

Position
chr12 : 2694638
Genotype
C/T
Gene

HGVS DNA code
NM_001129830.2:c.2436C>T
HGVS protein code
OMIM-ID
Pubmed Links
MutationTaster

Author:
ClinVar  
Text:
The term `not provided` is registered in MedGen to support identification of submissions to ClinVar for which no condition was named when assessing the variant. `not provided` differs from `not specified`, which is used when a variant is asserted to be benign, likely benign, or of uncertain significance for conditions that have not been specified.
Created at August 08, 2015 14:54, Last update August 08, 2015 14:54
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

Comments


Back