rs80358248

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

154191925

Gene

TPM3

is a	snp
is	mentioned by
dbSNP	rs80358248
dbSNP (classic)	rs80358248
ClinGen	rs80358248
ebi	rs80358248
HLI	rs80358248
Exac	rs80358248
Gnomad	rs80358248
Varsome	rs80358248
LitVar	rs80358248
Map	rs80358248
PheGenI	rs80358248
Biobank	rs80358248
1000 genomes	rs80358248
hgdp	rs80358248
ensembl	rs80358248
geneview	rs80358248
scholar	rs80358248
google	rs80358248
pharmgkb	rs80358248
gwascentral	rs80358248
openSNP	rs80358248
23andMe	rs80358248
SNPshot	rs80358248
SNPdbe	rs80358248
MSV3d	rs80358248
GWAS Ctlg	rs80358248

Max Magnitude

4

OMIM	191030
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs80358248(T;T)
Alt	Rs80358248(T;T)
Reference	Rs80358248(C;C)
Significance	Pathogenic
Disease	Nemaline myopathy 1 not provided
Variation	info
Gene	TPM3
CLNDBN	Nemaline myopathy 1 not provided
Reversed	1
HGVS	NC_000001.10:g.154164401G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013262.28, RCV000128709.1,

[PMID 10619715] Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.