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rs121909529

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 2 Nemaline Myopathy 3
(T;T) 4 Nemaline Myopathy 3
ReferenceGRCh38 38.1/141
Chromosome1
Position229431830
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909529
dbSNP (old)rs121909529
ClinGenrs121909529
ebirs121909529
HLIrs121909529
Exacrs121909529
Gnomadrs121909529
Varsomers121909529
Maprs121909529
PheGenIrs121909529
Biobankrs121909529
1000 genomesrs121909529
hgdprs121909529
ensemblrs121909529
gopubmedrs121909529
geneviewrs121909529
scholarrs121909529
googlers121909529
pharmgkbrs121909529
gwascentralrs121909529
openSNPrs121909529
23andMers121909529
23andMe allrs121909529
SNP Nexus

SNPshotrs121909529
SNPdbers121909529
MSV3drs121909529
GWAS Ctlgrs121909529
Max Magnitude4
OMIM102610
Desc
Variant0011
Relatedalso
ClinVar
Risk Rs121909529(T;T)
Alt Rs121909529(T;T)
Reference Rs121909529(A;A)
Significance Pathogenic
Disease Congenital myopathy with fiber type disproportion
Variation info
Gene ACTA1
CLNDBN Congenital myopathy with fiber type disproportion
Reversed 1
HGVS NC_000001.10:g.229567577T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019951.29,


[PMID 15468086] Actin mutations are one cause of congenital fibre type disproportion.