rs79891110

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs79891110(A;A)

Make rs79891110(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

2504944

Gene

CACNA1C

is a	snp
is	mentioned by
dbSNP	rs79891110
dbSNP (classic)	rs79891110
ClinGen	rs79891110
ebi	rs79891110
HLI	rs79891110
Exac	rs79891110
Gnomad	rs79891110
Varsome	rs79891110
LitVar	rs79891110
Map	rs79891110
PheGenI	rs79891110
Biobank	rs79891110
1000 genomes	rs79891110
hgdp	rs79891110
ensembl	rs79891110
geneview	rs79891110
scholar	rs79891110
google	rs79891110
pharmgkb	rs79891110
gwascentral	rs79891110
openSNP	rs79891110
23andMe	rs79891110
SNPshot	rs79891110
SNPdbe	rs79891110
MSV3d	rs79891110
GWAS Ctlg	rs79891110

Max Magnitude

0

OMIM	114205
Desc
Variant	0001
Related	also

ClinVar
Risk	rs79891110(A;A)
Alt	rs79891110(A;A)
Reference	Rs79891110(G;G)
Significance	Pathogenic
Disease	Timothy syndrome Congenital long QT syndrome not provided Long QT syndrome
Variation	info
Gene	CACNA1C
CLNDBN	Timothy syndrome Congenital long QT syndrome not provided Long QT syndrome
Reversed	0
HGVS	NC_000012.11:g.2614110G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019199.29, RCV000058285.3, RCV000170771.3, RCV000199739.1,

[PMID 15454078] Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

[PMID 15863612 ] Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.

[PMID 17224476 ] Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.

[PMID 19074970 ] The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation.