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rs79891110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs79891110(A;A)
Make rs79891110(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position2504944
GeneCACNA1C
is asnp
is mentioned by
dbSNPrs79891110
ebirs79891110
HLIrs79891110
Exacrs79891110
Varsomers79891110
Maprs79891110
PheGenIrs79891110
hapmaprs79891110
1000 genomesrs79891110
hgdprs79891110
ensemblrs79891110
gopubmedrs79891110
geneviewrs79891110
scholarrs79891110
googlers79891110
pharmgkbrs79891110
gwascentralrs79891110
openSNPrs79891110
23andMers79891110
23andMe allrs79891110
SNP Nexus

SNPshotrs79891110
SNPdbers79891110
MSV3drs79891110
GWAS Ctlgrs79891110
Max Magnitude0
OMIM114205
Desc
Variant0001
Relatedalso
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, RCV000058285.2, RCV000170771.2, RCV000199739.1,


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


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


[PMID 17224476OA-icon.png] 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 19074970OA-icon.png] The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation.