Annotation

Position
chr12 : 98927469
Genotype
G/C
Gene

HGVS DNA code
NM_001032283.2:c.565+1853G>C
HGVS protein code
OMIM-ID
Pubmed Links
MutationTaster

Author:
ClinVar  
Text:
-
Created at August 08, 2015 12:59, Last update August 08, 2015 12:59
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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