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rs80315385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80315385(A;A)
Make rs80315385(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position2504932
GeneCACNA1C
is asnp
is mentioned by
dbSNPrs80315385
ebirs80315385
HLIrs80315385
Exacrs80315385
Varsomers80315385
Maprs80315385
PheGenIrs80315385
hapmaprs80315385
1000 genomesrs80315385
hgdprs80315385
ensemblrs80315385
gopubmedrs80315385
geneviewrs80315385
scholarrs80315385
googlers80315385
pharmgkbrs80315385
gwascentralrs80315385
openSNPrs80315385
23andMers80315385
23andMe allrs80315385
SNP Nexus

SNPshotrs80315385
SNPdbers80315385
MSV3drs80315385
GWAS Ctlgrs80315385
Max Magnitude0
OMIM114205
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80315385(A;A)
Alt rs80315385(A;A)
Reference rs80315385(G;G)
Significance Pathogenic
Disease Timothy syndrome Congenital long QT syndrome
Variation info
Gene CACNA1C
CLNDBN Timothy syndrome Congenital long QT syndrome
Reversed 0
HGVS NC_000012.11:g.2614098G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019200.24, RCV000058284.2,


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

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