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rs80338800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338800(-;-)
Make rs80338800(-;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position42387804
GeneCAPN3
is asnp
is mentioned by
dbSNPrs80338800
ebirs80338800
HLIrs80338800
Exacrs80338800
Varsomers80338800
Maprs80338800
PheGenIrs80338800
hapmaprs80338800
1000 genomesrs80338800
hgdprs80338800
ensemblrs80338800
gopubmedrs80338800
geneviewrs80338800
scholarrs80338800
googlers80338800
pharmgkbrs80338800
gwascentralrs80338800
openSNPrs80338800
23andMers80338800
23andMe allrs80338800
SNP Nexus

SNPshotrs80338800
SNPdbers80338800
MSV3drs80338800
GWAS Ctlgrs80338800
Max Magnitude0
OMIM114240
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80338800(;)
Alt rs80338800(;)
Reference rs80338800(A;A)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A not provided
Reversed 0
HGVS NC_000015.9:g.42680002delA
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000019188.27, RCV000078099.3,


[PMID 161007] [Hazards of modern residential and urban areas to child health and development (author's transl)].


[PMID 9266733] A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.


[PMID 10679950] High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia.


[PMID 14981715] Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.


[PMID 15725583] The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.


[PMID 17318636] A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.