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rs199476335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
(TCT;TCT) 0 common in clinvar
Make rs199476335(-;-)
Make rs199476335(-;TCT)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745701
GeneCAV3
is asnp
is mentioned by
dbSNPrs199476335
ebirs199476335
HLIrs199476335
Exacrs199476335
Varsomers199476335
Maprs199476335
PheGenIrs199476335
hapmaprs199476335
1000 genomesrs199476335
hgdprs199476335
ensemblrs199476335
gopubmedrs199476335
geneviewrs199476335
scholarrs199476335
googlers199476335
pharmgkbrs199476335
gwascentralrs199476335
openSNPrs199476335
23andMers199476335
23andMe allrs199476335
SNP Nexus

SNPshotrs199476335
SNPdbers199476335
MSV3drs199476335
GWAS Ctlgrs199476335
Max Magnitude0
ClinVar
Risk rs199476335(;)
Alt rs199476335(;)
Reference rs199476335(CTT;CTT)
Significance Pathogenic
Disease Creatine phosphokinase Rippling muscle disease 2 Limb-girdle muscular dystrophy not provided
Variation info
Gene SSUH2 CAV3
CLNDBN Creatine phosphokinase, elevated serum Rippling muscle disease 2 Limb-girdle muscular dystrophy, type 1C not provided
Reversed 0
HGVS NC_000003.11:g.8787387_8787389delTCT
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008781.2, RCV000008782.3, RCV000008783.2, RCV000024390.1,


[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.