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rs80338802

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338802(A;A)
Make rs80338802(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position42410926
GeneCAPN3
is asnp
is mentioned by
dbSNPrs80338802
ebirs80338802
HLIrs80338802
Exacrs80338802
Varsomers80338802
Maprs80338802
PheGenIrs80338802
hapmaprs80338802
1000 genomesrs80338802
hgdprs80338802
ensemblrs80338802
gopubmedrs80338802
geneviewrs80338802
scholarrs80338802
googlers80338802
pharmgkbrs80338802
gwascentralrs80338802
openSNPrs80338802
23andMers80338802
23andMe allrs80338802
SNP Nexus

SNPshotrs80338802
SNPdbers80338802
MSV3drs80338802
GWAS Ctlgrs80338802
Max Magnitude0
OMIM114240
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338802(A;A)
Alt rs80338802(A;A)
Reference rs80338802(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42703124G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020096.2,


[PMID 7720071] Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.


[PMID 9246005OA-icon.png] DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene.


[PMID 12461690] Clinical variability in calpainopathy: what makes the difference?