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rs116840787

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs116840787(C;C)
Make rs116840787(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position8733992
GeneCAV3
is asnp
is mentioned by
dbSNPrs116840787
ebirs116840787
HLIrs116840787
Exacrs116840787
Varsomers116840787
Maprs116840787
PheGenIrs116840787
hapmaprs116840787
1000 genomesrs116840787
hgdprs116840787
ensemblrs116840787
gopubmedrs116840787
geneviewrs116840787
scholarrs116840787
googlers116840787
pharmgkbrs116840787
gwascentralrs116840787
openSNPrs116840787
23andMers116840787
23andMe allrs116840787
SNP Nexus

SNPshotrs116840787
SNPdbers116840787
MSV3drs116840787
GWAS Ctlgrs116840787
Max Magnitude0
ClinVar
Risk rs116840787(C;C)
Alt rs116840787(C;C)
Reference rs116840787(T;T)
Significance Untested
Disease not provided
Variation info
Gene SSUH2 CAV3
CLNDBN not provided
Reversed 0
HGVS NC_000003.11:g.8775678T>C
CLNSRC Leiden Muscular Dystrophy pages (CAV3)
CLNACC RCV000024426.1,


[PMID 16730439] Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.


[PMID 21294223OA-icon.png] Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.

OMIM607801
Desc
Variant
Relatedalso