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rs116840778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840778(A;A)
Make rs116840778(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position8733956
GeneCAV3
is asnp
is mentioned by
dbSNPrs116840778
ebirs116840778
HLIrs116840778
Exacrs116840778
Varsomers116840778
Maprs116840778
PheGenIrs116840778
hapmaprs116840778
1000 genomesrs116840778
hgdprs116840778
ensemblrs116840778
gopubmedrs116840778
geneviewrs116840778
scholarrs116840778
googlers116840778
pharmgkbrs116840778
gwascentralrs116840778
openSNPrs116840778
23andMers116840778
23andMe allrs116840778
SNP Nexus

SNPshotrs116840778
SNPdbers116840778
MSV3drs116840778
GWAS Ctlgrs116840778
Merged fromRs121909278
Max Magnitude0
OMIM601253
Desc
Variant0007
Relatedalso
ClinVar
Risk rs116840778(A,C;A,C)
Alt rs116840778(A,C;A,C)
Reference rs116840778(G;G)
Significance Pathogenic
Disease Rippling muscle disease 2 Creatine phosphokinase Limb-girdle muscular dystrophy Distal myopathy not provided
Variation info
Gene SSUH2 CAV3
CLNDBN Rippling muscle disease 2 Creatine phosphokinase, elevated serum Limb-girdle muscular dystrophy, type 1C Distal myopathy, Tateyama type not provided
Reversed 0
HGVS NC_000003.11:g.8775642G>A; NC_000003.11:g.8775642G>C
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008776.2, RCV000008777.2, RCV000008778.4, RCV000023083.2, RCV000024438.1,


[PMID 10746614] Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.


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


[PMID 11756609] A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.


[PMID 12269726] Rippling muscle disease in childhood.


[PMID 12807393] Caveolin-3 gene mutation in Japanese with rippling muscle disease.


[PMID 15318349] Phenotypic variability associated with Arg26Gln mutation in caveolin3.


[PMID 12939441] Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.


[PMID 11805270] Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.


[PMID 11353417] Rippling muscle disease: evidence for phenotypic and genetic heterogeneity.


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


[PMID 16723230] Rippling muscle disease.


[PMID 17897828] Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.


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