rs80315385

Orientation

plus

Stabilized

plus

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

Make rs80315385(A;A)

Make rs80315385(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

2504932

Gene

CACNA1C

is a	snp
is	mentioned by
dbSNP	rs80315385
dbSNP (classic)	rs80315385
ClinGen	rs80315385
ebi	rs80315385
HLI	rs80315385
Exac	rs80315385
Gnomad	rs80315385
Varsome	rs80315385
LitVar	rs80315385
Map	rs80315385
PheGenI	rs80315385
Biobank	rs80315385
1000 genomes	rs80315385
hgdp	rs80315385
ensembl	rs80315385
geneview	rs80315385
scholar	rs80315385
google	rs80315385
pharmgkb	rs80315385
gwascentral	rs80315385
openSNP	rs80315385
23andMe	rs80315385
SNPshot	rs80315385
SNPdbe	rs80315385
MSV3d	rs80315385
GWAS Ctlg	rs80315385

Max Magnitude

0

OMIM	114205
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80315385(A;A)
Alt	rs80315385(A;A)
Reference	Rs80315385(G;G)
Significance	Pathogenic
Disease	Timothy syndrome Congenital long QT syndrome not provided
Variation	info
Gene	CACNA1C
CLNDBN	Timothy syndrome Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000012.11:g.2614098G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019200.24, RCV000058284.3, RCV000422493.1,

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

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