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

rs28937594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 6 Inclusion Body Myopathy, type 2
(C;T) 3 carrier of one inclusion body myopathy allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position36217399
GeneGNE
is asnp
is mentioned by
dbSNPrs28937594
ebirs28937594
HLIrs28937594
Exacrs28937594
Varsomers28937594
Maprs28937594
PheGenIrs28937594
hapmaprs28937594
1000 genomesrs28937594
hgdprs28937594
ensemblrs28937594
gopubmedrs28937594
geneviewrs28937594
scholarrs28937594
googlers28937594
pharmgkbrs28937594
gwascentralrs28937594
openSNPrs28937594
23andMers28937594
23andMe allrs28937594
SNP Nexus

SNPshotrs28937594
SNPdbers28937594
MSV3drs28937594
GWAS Ctlgrs28937594
Max Magnitude6

rs28937594, also known as c.2228T>C, p.Met743Thr, M743T and most commonly in the literature M712T, is a mutation in the GNE gene on chromosome 9.

The very rare rs28937594(C) allele is the most common mutation leading to autosomal recessive inclusion body myopathy 2 (IBM2 or HIBM) in Middle Eastern populations.[PMID 12743242]

See also OMIM 603824.0005

OMIM603824
DescINCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE
Variant0005
Relatedalso
Neighborrs28939713
Distance828


ClinVar
Risk rs28937594(C;C)
Alt rs28937594(C;C)
Reference rs28937594(T;T)
Significance Pathogenic
Disease Inclusion body myopathy 2 Nonaka myopathy
Variation info
Gene GNE
CLNDBN Inclusion body myopathy 2 Nonaka myopathy
Reversed 1
HGVS NC_000009.11:g.36217396A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006395.5, RCV000006396.4,