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rs28928909

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 2.9 Possible tendency for muscle cramps?
Make rs28928909(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position80708053
GeneMYF6
is asnp
is mentioned by
dbSNPrs28928909
ebirs28928909
HLIrs28928909
Exacrs28928909
Varsomers28928909
Maprs28928909
PheGenIrs28928909
hapmaprs28928909
1000 genomesrs28928909
hgdprs28928909
ensemblrs28928909
gopubmedrs28928909
geneviewrs28928909
scholarrs28928909
googlers28928909
pharmgkbrs28928909
gwascentralrs28928909
openSNPrs28928909
23andMers28928909
23andMe allrs28928909
SNP Nexus

SNPshotrs28928909
SNPdbers28928909
MSV3drs28928909
GWAS Ctlgrs28928909
GMAF0.0009183
Max Magnitude2.9

rs28928909, also known as c.334G>T, p.Ala112Ser and A112S, represents a rare variant in the MYF6 gene, a member of a gene family of muscle determination factors in humans.

One report published in 2000, describing a mild case of centronuclear myopathy in a 9 year old boy (based on complaints of muscle cramps and weakness in his lower limbs during vigorous exercise), concludes that the likely causative mutation, acting in an autosomal dominant manner, was rs28928909(T).[PMID 11053684]

This variant is quite rare (with only about 100 carriers out of 60,000 sequenced according to ExAC), but the association with any form of myopathy has not been replicated to our knowledge.

OMIM159991
DescMYOPATHY, CENTRONUCLEAR, MILD
Variant0001
Relatedalso


ClinVar
Risk rs28928909(T;T)
Alt rs28928909(T;T)
Reference Rs28928909(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MYF6
CLNDBN Myopathy, centronuclear, 3
Reversed 0
HGVS NC_000012.11:g.81101832G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015216.26,