rs121964854

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

154172972

Gene

TPM3

is a	snp
is	mentioned by
dbSNP	rs121964854
dbSNP (classic)	rs121964854
ClinGen	rs121964854
ebi	rs121964854
HLI	rs121964854
Exac	rs121964854
Gnomad	rs121964854
Varsome	rs121964854
LitVar	rs121964854
Map	rs121964854
PheGenI	rs121964854
Biobank	rs121964854
1000 genomes	rs121964854
hgdp	rs121964854
ensembl	rs121964854
geneview	rs121964854
scholar	rs121964854
google	rs121964854
pharmgkb	rs121964854
gwascentral	rs121964854
openSNP	rs121964854
23andMe	rs121964854
SNPshot	rs121964854
SNPdbe	rs121964854
MSV3d	rs121964854
GWAS Ctlg	rs121964854

Max Magnitude

4

OMIM	191030
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs121964854(G;G) Rs121964854(T;T)
Alt	Rs121964854(G;G) Rs121964854(T;T)
Reference	Rs121964854(C;C)
Significance	Pathogenic
Disease	Congenital myopathy with fiber type disproportion Cap myopathy 1 not provided Nemaline myopathy 1
Variation	info
Gene	TPM3
CLNDBN	Congenital myopathy with fiber type disproportion Cap myopathy 1 not provided Nemaline myopathy 1
Reversed	1
HGVS	NC_000001.10:g.154145448G>A; NC_000001.10:g.154145448G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013269.29, RCV000054416.19, RCV000128700.2, RCV000013268.19, RCV000128699.1, RCV000226212.1,

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

[PMID 19487656] TPM3 mutation in one of the original cases of cap disease.

[PMID 20179953] Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.

[PMID 20554445] Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.