Annotation

Position
chr12 : 2583058
Genotype
C/T
Gene

HGVS DNA code
NM_001129830.2:c.758-12212C>T
HGVS protein code
OMIM-ID
MutationTaster

Author:
ClinVar  
Text:
-
Created at August 08, 2015 13:41, Last update August 08, 2015 13:41
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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