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rs1008642

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1008642(C;T)
Make rs1008642(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position8733975
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs1008642
ebirs1008642
HLIrs1008642
Exacrs1008642
Varsomers1008642
Maprs1008642
PheGenIrs1008642
hapmaprs1008642
1000 genomesrs1008642
hgdprs1008642
ensemblrs1008642
gopubmedrs1008642
geneviewrs1008642
scholarrs1008642
googlers1008642
pharmgkbrs1008642
gwascentralrs1008642
openSNPrs1008642
23andMers1008642
23andMe allrs1008642
SNP Nexus

SNPshotrs1008642
SNPdbers1008642
MSV3drs1008642
GWAS Ctlgrs1008642
GMAF0.3682
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM601253
Desc
Variant0014
Relatedalso


ClinVar
Risk rs1008642(G,T;G,T)
Alt rs1008642(G,T;G,T)
Reference rs1008642(C;C)
Significance Other
Disease Distal myopathy not provided not specified
Variation info
Gene SSUH2 CAV3
CLNDBN Distal myopathy, Tateyama type not provided not specified
Reversed 0
HGVS NC_000003.11:g.8775661C>G; NC_000003.11:g.8775661C>T
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008786.2, RCV000024392.3, RCV000039807.10,



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[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.