Annotation

Position
chr12 : 2614110
Genotype
A/G
Gene
CACNA1C   (Entrez-ID: 775)

HGVS DNA code
NM_000719.6.c.1216G>A
HGVS protein code
NP_000710.5.p.G406R
Link
OMIM-ID
114205
Pubmed Links
Pubmed Article 15454078
MutationTaster

Author:
GeneTalk
Text:
Timothy syndrome
Created at December 01, 2011 04:07, Last update December 01, 2011 04:07
Voting
Pathogenic
Clinical significance
Pathogenic
Votes
StarsClinical significance
53 votes
40 votes
30 votes
20 votes
10 votes

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