Have questions? Visit https://www.reddit.com/r/SNPedia

rs72546668

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72546668(C;T)
Make rs72546668(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745644
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs72546668
ebirs72546668
HLIrs72546668
Exacrs72546668
Varsomers72546668
Maprs72546668
PheGenIrs72546668
hapmaprs72546668
1000 genomesrs72546668
hgdprs72546668
ensemblrs72546668
gopubmedrs72546668
geneviewrs72546668
scholarrs72546668
googlers72546668
pharmgkbrs72546668
gwascentralrs72546668
openSNPrs72546668
23andMers72546668
23andMe allrs72546668
SNP Nexus

SNPshotrs72546668
SNPdbers72546668
MSV3drs72546668
GWAS Ctlgrs72546668
GMAF0.001837
Max Magnitude0
OMIM601253
Desc
Variant0018
Relatedalso


ClinVar
Risk rs72546668(A,T;A,T)
Alt rs72546668(A,T;A,T)
Reference rs72546668(C;C)
Significance Other
Disease not provided Long QT syndrome 9 Long QT syndrome 2/9 not specified Long QT syndrome
Variation info
Gene SSUH2 CAV3
CLNDBN not provided Long QT syndrome 9 Long QT syndrome 2/9, digenic not specified Long QT syndrome
Reversed 0
HGVS NC_000003.11:g.8787330C>A; NC_000003.11:g.8787330C>T
CLNSRC HGMD Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000119382.1, RCV000008790.2, RCV000008791.2, RCV000024406.7, RCV000039801.5, RCV000168328.4,



[PMID 16770780] CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.

[PMID 17060380] Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

[PMID 17275750OA-icon.png] Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

[PMID 18253147] Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.

[PMID 16770780] CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.

[PMID 17060380] Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

[PMID 17210839] Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.

[PMID 17275750OA-icon.png] Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

[PMID 18253147] Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.

[PMID 22245016OA-icon.png] Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes.