rs1008642

plus

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

Reference

GRCh38 38.1/141

Chromosome

3

Position

8733975

Gene	CAV3, SSUH2

0.3682

0

(C;C) (C;T) (T;T)

28

ClinVar
Risk	rs1008642(G;G) rs1008642(T;T)
Alt	rs1008642(G;G) rs1008642(T;T)
Reference	Rs1008642(C;C)
Significance	Other
Disease	Distal myopathy not provided not specified Cardiovascular phenotype Limb-Girdle Muscular Dystrophy Romano-Ward syndrome Hypertrophic cardiomyopathy Caveolinopathy Long QT syndrome
Variation	info
Gene	SSUH2 CAV3
CLNDBN	Distal myopathy, Tateyama type not provided not specified Cardiovascular phenotype Limb-Girdle Muscular Dystrophy, Dominant Romano-Ward syndrome Hypertrophic cardiomyopathy Caveolinopathy Long QT syndrome
Reversed	0
HGVS	NC_000003.11:g.8775661C>G; NC_000003.11:g.8775661C>T
CLNSRC	Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008786.3, RCV000024392.3, RCV000039807.11, RCV000243559.1, RCV000280736.1, RCV000314528.1, RCV000335806.1, RCV000369159.1, RCV000401708.1,

[PMID 20592870 ] Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.

[PMID 14672715] Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.

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

[PMID 15564037] Two novel CAV3 gene mutations in Japanese families.

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

[PMID 17556197] Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort.