rs116840805

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs116840805(C;T)

Make rs116840805(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

8745725

Gene	CAV3, SSUH2

is a	snp
is	mentioned by
dbSNP	rs116840805
dbSNP (classic)	rs116840805
ClinGen	rs116840805
ebi	rs116840805
HLI	rs116840805
Exac	rs116840805
Gnomad	rs116840805
Varsome	rs116840805
LitVar	rs116840805
Map	rs116840805
PheGenI	rs116840805
Biobank	rs116840805
1000 genomes	rs116840805
hgdp	rs116840805
ensembl	rs116840805
geneview	rs116840805
scholar	rs116840805
google	rs116840805
pharmgkb	rs116840805
gwascentral	rs116840805
openSNP	rs116840805
23andMe	rs116840805
SNPshot	rs116840805
SNPdbe	rs116840805
MSV3d	rs116840805
GWAS Ctlg	rs116840805

Max Magnitude

0

OMIM	601253
Desc
Variant	0001
Related	also

ClinVar
Risk	rs116840805(T;T)
Alt	rs116840805(T;T)
Reference	Rs116840805(C;C)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy Rippling muscle disease 2 not provided
Variation	info
Gene	SSUH2 CAV3
CLNDBN	Limb-girdle muscular dystrophy, type 1C Rippling muscle disease 2 not provided
Reversed	0
HGVS	NC_000003.11:g.8787411C>T
CLNSRC	Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008765.5, RCV000008766.4, RCV000024379.1,

[PMID 9537420] Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

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