rs121909531

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Nemaline Myopathy 3 carrier
(T;T)	4	Nemaline Myopathy 3

Reference

GRCh38 38.1/141

Chromosome

1

Position

229431633

Gene

ACTA1

is a	snp
is	mentioned by
dbSNP	rs121909531
dbSNP (classic)	rs121909531
ClinGen	rs121909531
ebi	rs121909531
HLI	rs121909531
Exac	rs121909531
Gnomad	rs121909531
Varsome	rs121909531
LitVar	rs121909531
Map	rs121909531
PheGenI	rs121909531
Biobank	rs121909531
1000 genomes	rs121909531
hgdp	rs121909531
ensembl	rs121909531
geneview	rs121909531
scholar	rs121909531
google	rs121909531
pharmgkb	rs121909531
gwascentral	rs121909531
openSNP	rs121909531
23andMe	rs121909531
SNPshot	rs121909531
SNPdbe	rs121909531
MSV3d	rs121909531
GWAS Ctlg	rs121909531

Max Magnitude

4

OMIM	102610
Desc
Variant	0013
Related	also

ClinVar
Risk	Rs121909531(T;T)
Alt	Rs121909531(T;T)
Reference	Rs121909531(C;C)
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.229567380G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019953.28,

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