Annotation

Position
chr12 : 2245636
Genotype
-/-
Gene
CACNA1C

HGVS DNA code
NM_001129840.1:c.477+16040_477+23328del
HGVS protein code
OMIM-ID
114205
Pubmed Links
MutationTaster

Author:
ClinVar  
Text:
-
Created at August 08, 2015 15:07, Last update August 08, 2015 15:07
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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