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rs80338804

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(AG;AG) 0 common in clinvar
Make rs80338804(-;-)
Make rs80338804(-;AG)
ReferenceGRCh38 38.1/141
Chromosome15
Position42410982
GeneCAPN3
is asnp
is mentioned by
dbSNPrs80338804
ClinGenrs80338804
ebirs80338804
HLIrs80338804
Exacrs80338804
Varsomers80338804
Maprs80338804
PheGenIrs80338804
hapmaprs80338804
1000 genomesrs80338804
hgdprs80338804
ensemblrs80338804
gopubmedrs80338804
geneviewrs80338804
scholarrs80338804
googlers80338804
pharmgkbrs80338804
gwascentralrs80338804
openSNPrs80338804
23andMers80338804
23andMe allrs80338804
SNP Nexus

SNPshotrs80338804
SNPdbers80338804
MSV3drs80338804
GWAS Ctlgrs80338804
Max Magnitude0
OMIM114240
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80338804(AAG;AAG) rs80338804(ATC;ATC) rs80338804(ATCATCT;ATCATCT)
Alt rs80338804(AAG;AAG) rs80338804(ATC;ATC) rs80338804(ATCATCT;ATCATCT)
Reference Rs80338804(A;A)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy Myositis
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A Myositis, eosinophilic
Reversed 0
HGVS NC_000015.9:g.42703180_42703181delAGinsTCATCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000019184.30, RCV000019185.28,


[PMID 9150160OA-icon.png] Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

[PMID 9762961] Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain).

[PMID 9777948OA-icon.png] Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.

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

[PMID 16607617] CAPN3 mutations in patients with idiopathic eosinophilic myositis.