rs199476331

plus

Geno	Mag	Summary
(CACCACCTT;CACCACCTT)	0	common in clinvar
(CACCTTCAC;CACCTTCAC)	0	common in clinvar
(I;I)	0	common genotype

Make rs199476331(-;-)

Make rs199476331(-;CACCTTCAC)

Reference

GRCh38 38.1/141

Chromosome

3

Position

8745600

Gene	CAV3, SSUH2

is a	snp
is	mentioned by
dbSNP	rs199476331
dbSNP (classic)	rs199476331
ClinGen	rs199476331
ebi	rs199476331
HLI	rs199476331
Exac	rs199476331
Gnomad	rs199476331
Varsome	rs199476331
LitVar	rs199476331
Map	rs199476331
PheGenI	rs199476331
Biobank	rs199476331
1000 genomes	rs199476331
hgdp	rs199476331
ensembl	rs199476331
geneview	rs199476331
scholar	rs199476331
google	rs199476331
pharmgkb	rs199476331
gwascentral	rs199476331
openSNP	rs199476331
23andMe	rs199476331
SNPshot	rs199476331
SNPdbe	rs199476331
MSV3d	rs199476331
GWAS Ctlg	rs199476331

Merged from

Rs116840800

Max Magnitude

0

ClinVar
Risk	rs199476331(-;-) Rs199476331(CACCTTCAC;CACCTTCAC)
Alt	rs199476331(-;-) Rs199476331(CACCTTCAC;CACCTTCAC)
Reference	Rs199476331(CACCACCTT;CACCACCTT)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy not provided
Variation	info
Gene	SSUH2 CAV3
CLNDBN	Limb-girdle muscular dystrophy, type 1C not provided
Reversed	0
HGVS	NC_000003.11:g.8787286_8787294delCACCTTCAC
CLNSRC	Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC	RCV000008767.4, RCV000024380.1,

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

[PMID 14600260] A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes.