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

rs72546667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72546667(A;A)
Make rs72546667(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745577
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs72546667
dbSNP (classic)rs72546667
ClinGenrs72546667
ebirs72546667
HLIrs72546667
Exacrs72546667
Gnomadrs72546667
Varsomers72546667
LitVarrs72546667
Maprs72546667
PheGenIrs72546667
Biobankrs72546667
1000 genomesrs72546667
hgdprs72546667
ensemblrs72546667
geneviewrs72546667
scholarrs72546667
googlers72546667
pharmgkbrs72546667
gwascentralrs72546667
openSNPrs72546667
23andMers72546667
23andMe allrs72546667
SNPshotrs72546667
SNPdbers72546667
MSV3drs72546667
GWAS Ctlgrs72546667
GMAF0.03214
Max Magnitude0
OMIM601253
Desc
Variant0003
Relatedalso


ClinVar
Risk rs72546667(A;A)
Alt rs72546667(A;A)
Reference Rs72546667(G;G)
Significance Other
Disease Limb-girdle muscular dystrophy not specified not provided Limb-girdle muscular dystrophy Cardiovascular phenotype Limb-Girdle Muscular Dystrophy Long QT syndrome
Variation info
Gene SSUH2 CAV3
CLNDBN Limb-girdle muscular dystrophy, type 1C not specified not provided Limb-girdle muscular dystrophy Cardiovascular phenotype Limb-Girdle Muscular Dystrophy, Dominant Long QT syndrome
Reversed 0
HGVS NC_000003.11:g.8787263G>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008768.5, RCV000039799.11, RCV000119393.4, RCV000171805.1, RCV000249765.1, RCV000362621.1, RCV000466159.1,



[PMID 9536092] Caveolin-3 in muscular dystrophy.

[PMID 11251997] Mutations in the caveolin-3 gene: When are they pathogenic?

[PMID 15580566] Molecular and muscle pathology in a series of caveolinopathy patients.

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

[PMID 9536092] Caveolin-3 in muscular dystrophy.

[PMID 11251997] Mutations in the caveolin-3 gene: When are they pathogenic?

[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.