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rs398123784

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5.7 Limb-girdle muscular dystrophy, type 2B
(-;CC) 3 Carrier of a Limb-girdle muscular dystrophy, type 2B mutation
(CC;CC) 0 common in clinvar
(D;I) Likely miscall by Ancestry; otherwise, Limb-girdle muscular dystrophy, type 2B mutation carrier
ReferenceGRCh38 38.1/141
Chromosome2
Position71511857
GeneDYSF
is asnp
is mentioned by
dbSNPrs398123784
ebirs398123784
HLIrs398123784
Exacrs398123784
Varsomers398123784
Maprs398123784
PheGenIrs398123784
hapmaprs398123784
1000 genomesrs398123784
hgdprs398123784
ensemblrs398123784
gopubmedrs398123784
geneviewrs398123784
scholarrs398123784
googlers398123784
pharmgkbrs398123784
gwascentralrs398123784
openSNPrs398123784
23andMers398123784
23andMe allrs398123784
SNP Nexus

SNPshotrs398123784
SNPdbers398123784
MSV3drs398123784
GWAS Ctlgrs398123784
Max Magnitude5.7

rs398123784, also known as c.393_394delCC or p.Leu132Valfs, represents a rare mutation in the DYSF gene on chromosome 2.

Inherited as an autosomal recessive, the minor allele of rs398123784 is reported in ClinVar to be pathogenic for limb-girdle muscular dystrophy, type 2B.


ClinVar
Risk
Alt
Reference Rs398123784(CC;CC)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN not provided Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71738987_71738988delCC
CLNSRC ClinVar
CLNACC RCV000080279.3, RCV000178879.1,