rs104894128

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

9

Position

35685486

Gene

TPM2

is a	snp
is	mentioned by
dbSNP	rs104894128
dbSNP (classic)	rs104894128
ClinGen	rs104894128
ebi	rs104894128
HLI	rs104894128
Exac	rs104894128
Gnomad	rs104894128
Varsome	rs104894128
LitVar	rs104894128
Map	rs104894128
PheGenI	rs104894128
Biobank	rs104894128
1000 genomes	rs104894128
hgdp	rs104894128
ensembl	rs104894128
geneview	rs104894128
scholar	rs104894128
google	rs104894128
pharmgkb	rs104894128
gwascentral	rs104894128
openSNP	rs104894128
23andMe	rs104894128
SNPshot	rs104894128
SNPdbe	rs104894128
MSV3d	rs104894128
GWAS Ctlg	rs104894128

Max Magnitude

4

OMIM	190990
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs104894128(C;C)
Alt	Rs104894128(C;C)
Reference	Rs104894128(A;A)
Significance	Pathogenic
Disease	Nemaline myopathy 4 not provided
Variation	info
Gene	TPM2
CLNDBN	Nemaline myopathy 4 not provided
Reversed	1
HGVS	NC_000009.11:g.35685483T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013277.18, RCV000128685.1,

[PMID 11738357] Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.