rs121964853

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	4	Nemaline Myopathy 1
(A;C)	2	Nemaline Myopathy 1
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

154176194

Gene

TPM3

is a	snp
is	mentioned by
dbSNP	rs121964853
dbSNP (classic)	rs121964853
ClinGen	rs121964853
ebi	rs121964853
HLI	rs121964853
Exac	rs121964853
Gnomad	rs121964853
Varsome	rs121964853
LitVar	rs121964853
Map	rs121964853
PheGenI	rs121964853
Biobank	rs121964853
1000 genomes	rs121964853
hgdp	rs121964853
ensembl	rs121964853
geneview	rs121964853
scholar	rs121964853
google	rs121964853
pharmgkb	rs121964853
gwascentral	rs121964853
openSNP	rs121964853
23andMe	rs121964853
SNPshot	rs121964853
SNPdbe	rs121964853
MSV3d	rs121964853
GWAS Ctlg	rs121964853

Max Magnitude

4

OMIM	191030
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs121964853(A;A)
Alt	Rs121964853(A;A)
Reference	Rs121964853(C;C)
Significance	Pathogenic
Disease	Congenital myopathy with fiber type disproportion not provided
Variation	info
Gene	TPM3
CLNDBN	Congenital myopathy with fiber type disproportion not provided
Reversed	1
HGVS	NC_000001.10:g.154148670G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013267.23, RCV000128697.1,

[PMID 18300303] Mutations in TPM3 are a common cause of congenital fiber type disproportion.