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rs367543052

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs367543052(-;-)
Make rs367543052(-;AGA)
ReferenceGRCh38 38.1/141
Chromosome14
Position23415476
GeneMYH7
is asnp
is mentioned by
dbSNPrs367543052
ebirs367543052
HLIrs367543052
Exacrs367543052
Varsomers367543052
Maprs367543052
PheGenIrs367543052
hapmaprs367543052
1000 genomesrs367543052
hgdprs367543052
ensemblrs367543052
gopubmedrs367543052
geneviewrs367543052
scholarrs367543052
googlers367543052
pharmgkbrs367543052
gwascentralrs367543052
openSNPrs367543052
23andMers367543052
23andMe allrs367543052
SNP Nexus

SNPshotrs367543052
SNPdbers367543052
MSV3drs367543052
GWAS Ctlgrs367543052
Max Magnitude0
ClinVar
Risk rs367543052(;)
Alt rs367543052(;)
Reference rs367543052(AGA;AGA)
Significance Pathogenic
Disease Laing distal myopathy Congenital myopathy with fiber type disproportion Myopathy
Variation info
Gene MYH7 MHRT
CLNDBN Laing distal myopathy Congenital myopathy with fiber type disproportion Myopathy, distal, 1
Reversed 1
HGVS NC_000014.8:g.23884685_23884687delTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000015191.25, RCV000034922.1, RCV000035952.4,


[PMID 20733148] MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.