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rs199476331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CACCACCTT;CACCACCTT) 0 common in clinvar
(CACCTTCAC;CACCTTCAC) 0 common in clinvar
Make rs199476331(-;-)
Make rs199476331(-;CACCTTCAC)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745600
GeneCAV3
is asnp
is mentioned by
dbSNPrs199476331
ebirs199476331
HLIrs199476331
Exacrs199476331
Varsomers199476331
Maprs199476331
PheGenIrs199476331
hapmaprs199476331
1000 genomesrs199476331
hgdprs199476331
ensemblrs199476331
gopubmedrs199476331
geneviewrs199476331
scholarrs199476331
googlers199476331
pharmgkbrs199476331
gwascentralrs199476331
openSNPrs199476331
23andMers199476331
23andMe allrs199476331
SNP Nexus

SNPshotrs199476331
SNPdbers199476331
MSV3drs199476331
GWAS Ctlgrs199476331
Max Magnitude0
ClinVar
Risk rs199476331(;)
Alt rs199476331(;)
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 RCV000008767.3, 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.