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rs116840802

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTG;TCTG) 0 common in clinvar
Make rs116840802(-;-)
Make rs116840802(-;TCTG)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745701
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs116840802
ebirs116840802
HLIrs116840802
Exacrs116840802
Varsomers116840802
Maprs116840802
PheGenIrs116840802
hapmaprs116840802
1000 genomesrs116840802
hgdprs116840802
ensemblrs116840802
gopubmedrs116840802
geneviewrs116840802
scholarrs116840802
googlers116840802
pharmgkbrs116840802
gwascentralrs116840802
openSNPrs116840802
23andMers116840802
23andMe allrs116840802
SNP Nexus

SNPshotrs116840802
SNPdbers116840802
MSV3drs116840802
GWAS Ctlgrs116840802
Max Magnitude0
OMIM601253
Desc
Variant0011
Relatedalso
ClinVar
Risk rs116840802(;)
Alt rs116840802(;)
Reference rs116840802(TCTG;TCTG)
Significance Untested
Disease Creatine phosphokinase Limb-girdle muscular dystrophy
Variation info
Gene CAV3
CLNDBN Creatine phosphokinase, elevated serum Limb-girdle muscular dystrophy, type 1C
Reversed 0
HGVS NC_000003.11:g.8787387_8787390delTCTG
CLNSRC OMIM Allelic Variant
CLNACC SCV000028991.1, SCV000028991.1, SCV000028993.1, SCV000028993.1,


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

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

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