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rs116840786

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840786(A;A)
Make rs116840786(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position8733962
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs116840786
ebirs116840786
HLIrs116840786
Exacrs116840786
Varsomers116840786
Maprs116840786
PheGenIrs116840786
hapmaprs116840786
1000 genomesrs116840786
hgdprs116840786
ensemblrs116840786
gopubmedrs116840786
geneviewrs116840786
scholarrs116840786
googlers116840786
pharmgkbrs116840786
gwascentralrs116840786
openSNPrs116840786
23andMers116840786
23andMe allrs116840786
SNP Nexus

SNPshotrs116840786
SNPdbers116840786
MSV3drs116840786
GWAS Ctlgrs116840786
Max Magnitude0
OMIM601253
Desc
Variant0012
Relatedalso
ClinVar
Risk rs116840786(A,T;A,T)
Alt rs116840786(A,T;A,T)
Reference rs116840786(C;C)
Significance Pathogenic
Disease Creatine phosphokinase not provided
Variation info
Gene SSUH2 CAV3
CLNDBN Creatine phosphokinase, elevated serum not provided
Reversed 0
HGVS NC_000003.11:g.8775648C>T
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008784.2, RCV000024389.1,


[PMID 12082049OA-icon.png] Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.


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


[PMID 14749532] Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition.