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rs116840789

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840789(A;A)
Make rs116840789(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745547
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs116840789
ebirs116840789
HLIrs116840789
Exacrs116840789
Varsomers116840789
Maprs116840789
PheGenIrs116840789
hapmaprs116840789
1000 genomesrs116840789
hgdprs116840789
ensemblrs116840789
gopubmedrs116840789
geneviewrs116840789
scholarrs116840789
googlers116840789
pharmgkbrs116840789
gwascentralrs116840789
openSNPrs116840789
23andMers116840789
23andMe allrs116840789
SNP Nexus

SNPshotrs116840789
SNPdbers116840789
MSV3drs116840789
GWAS Ctlgrs116840789
Merged fromRs121909276
Max Magnitude0
OMIM601253
Desc
Variant0005
Relatedalso
ClinVar
Risk rs116840789(A,T;A,T)
Alt rs116840789(A,T;A,T)
Reference rs116840789(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy Rippling muscle disease 2 Creatine phosphokinase not provided
Variation info
Gene SSUH2 CAV3
CLNDBN Limb-girdle muscular dystrophy, type 1C Rippling muscle disease 2 Creatine phosphokinase, elevated serum not provided
Reversed 0
HGVS NC_000003.11:g.8787233G>A; NC_000003.11:g.8787233G>T
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008772.3, RCV000008773.2, RCV000008774.2, RCV000024382.1, RCV000024440.1,


[PMID 11001938] Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.


[PMID 1146501] A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen.


[PMID 10227634] Phenotypic variability in rippling muscle disease.


[PMID 11431690] Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.


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


[PMID 12666119] Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.


[PMID 17994539] Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.


[PMID 18583131] Caveolinopathy--new mutations and additional symptoms.


[PMID 20229577] Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.