rs121909529

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;T)	2	Nemaline Myopathy 3
(T;T)	4	Nemaline Myopathy 3

Reference

GRCh38 38.1/141

Chromosome

1

Position

229431830

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs121909529
dbSNP (classic)	rs121909529
ClinGen	rs121909529
ebi	rs121909529
HLI	rs121909529
Exac	rs121909529
Gnomad	rs121909529
Varsome	rs121909529
LitVar	rs121909529
Map	rs121909529
PheGenI	rs121909529
Biobank	rs121909529
1000 genomes	rs121909529
hgdp	rs121909529
ensembl	rs121909529
geneview	rs121909529
scholar	rs121909529
google	rs121909529
pharmgkb	rs121909529
gwascentral	rs121909529
openSNP	rs121909529
23andMe	rs121909529
SNPshot	rs121909529
SNPdbe	rs121909529
MSV3d	rs121909529
GWAS Ctlg	rs121909529

Max Magnitude

4

OMIM	102610
Desc
Variant	0011
Related	also

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.