Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(GAC;GAC) 0 common in clinvar
Make rs80338803(-;-)
Make rs80338803(-;A)
Make rs80338803(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position42405938
GeneCAPN3
is asnp
is mentioned by
dbSNPrs80338803
ebirs80338803
HLIrs80338803
Exacrs80338803
Varsomers80338803
Maprs80338803
PheGenIrs80338803
hapmaprs80338803
1000 genomesrs80338803
hgdprs80338803
ensemblrs80338803
gopubmedrs80338803
geneviewrs80338803
scholarrs80338803
googlers80338803
pharmgkbrs80338803
gwascentralrs80338803
openSNPrs80338803
23andMers80338803
23andMe allrs80338803
SNP Nexus

SNPshotrs80338803
SNPdbers80338803
MSV3drs80338803
GWAS Ctlgrs80338803
Max Magnitude0
OMIM114240
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80338803(A;A)
Alt rs80338803(A;A)
Reference rs80338803(GAC;GAC)
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.42698136dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000019187.25,


[PMID 9771675] Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.


[PMID 11525884] Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy.