rs199476335

plus

Geno	Mag	Summary
(CTT;CTT)	0	common in clinvar
(I;I)	0	common genotype
(TCT;TCT)	0	common in clinvar

Make rs199476335(-;-)

Make rs199476335(-;TCT)

Reference

GRCh38 38.1/141

Chromosome

3

Position

8745701

Gene	CAV3, SSUH2

is a	snp
is	mentioned by
dbSNP	rs199476335
dbSNP (classic)	rs199476335
ClinGen	rs199476335
ebi	rs199476335
HLI	rs199476335
Exac	rs199476335
Gnomad	rs199476335
Varsome	rs199476335
LitVar	rs199476335
Map	rs199476335
PheGenI	rs199476335
Biobank	rs199476335
1000 genomes	rs199476335
hgdp	rs199476335
ensembl	rs199476335
geneview	rs199476335
scholar	rs199476335
google	rs199476335
pharmgkb	rs199476335
gwascentral	rs199476335
openSNP	rs199476335
23andMe	rs199476335
SNPshot	rs199476335
SNPdbe	rs199476335
MSV3d	rs199476335
GWAS Ctlg	rs199476335

Max Magnitude

0

ClinVar
Risk	rs199476335(-;-)
Alt	rs199476335(-;-)
Reference	Rs199476335(CTT;CTT)
Significance	Pathogenic
Disease	Creatine phosphokinase Rippling muscle disease 2 Limb-girdle muscular dystrophy not provided not specified
Variation	info
Gene	SSUH2 CAV3
CLNDBN	Creatine phosphokinase, elevated serum Rippling muscle disease 2 Limb-girdle muscular dystrophy, type 1C not provided not specified
Reversed	0
HGVS	NC_000003.11:g.8787387_8787389delTCT
CLNSRC	Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC	RCV000008781.3, RCV000008782.4, RCV000008783.3, RCV000024390.1, RCV000347944.1,

[PMID 14663034] A CAV3 microdeletion differentially affects skeletal muscle and myocardium.

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