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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
ebirs72546667
HLIrs72546667
Exacrs72546667
Varsomers72546667
Maprs72546667
PheGenIrs72546667
hapmaprs72546667
1000 genomesrs72546667
hgdprs72546667
ensemblrs72546667
gopubmedrs72546667
geneviewrs72546667
scholarrs72546667
googlers72546667
pharmgkbrs72546667
gwascentralrs72546667
openSNPrs72546667
23andMers72546667
23andMe allrs72546667
SNP Nexus

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
Variation info
Gene SSUH2 CAV3
CLNDBN Limb-girdle muscular dystrophy, type 1C not specified not provided Limb-girdle muscular dystrophy
Reversed 0
HGVS NC_000003.11:g.8787263G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008768.3, RCV000039799.10, RCV000119393.3, RCV000171805.1,



[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.


GET Evidence
CAV3-G56S
aa_change Gly56Ser
aa_change_short G56S
impact pathogenic
qualified_impact High clinical importance, Uncertain pathogenic
overall_frequency 0.0381112
summary This variant has been implicated in causing limb-girdle dystrophy in a recessive manner, but it has only been seen homozygously once in a single patient and has been seen heterozygously in controls, so case/control data lacks significance.