rs80358249

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	1	carrier for Nemaline Myopathy 5
(T;T)	4	Nemaline Myopathy 5

Reference

GRCh38 38.1/141

Chromosome

19

Position

55137176

Gene

TNNT1

is a	snp
is	mentioned by
dbSNP	rs80358249
dbSNP (classic)	rs80358249
ClinGen	rs80358249
ebi	rs80358249
HLI	rs80358249
Exac	rs80358249
Gnomad	rs80358249
Varsome	rs80358249
LitVar	rs80358249
Map	rs80358249
PheGenI	rs80358249
Biobank	rs80358249
1000 genomes	rs80358249
hgdp	rs80358249
ensembl	rs80358249
geneview	rs80358249
scholar	rs80358249
google	rs80358249
pharmgkb	rs80358249
gwascentral	rs80358249
openSNP	rs80358249
23andMe	rs80358249
SNPshot	rs80358249
SNPdbe	rs80358249
MSV3d	rs80358249
GWAS Ctlg	rs80358249

Max Magnitude

4

OMIM	191041
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs80358249(T;T)
Alt	Rs80358249(T;T)
Reference	Rs80358249(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 5 not provided
Variation	info
Gene	TNNT1
CLNDBN	Nemaline myopathy 5 not provided
Reversed	1
HGVS	NC_000019.9:g.55648544C>A
CLNSRC	Leiden Muscular Dystrophy pages (TNNT1) OMIM Allelic Variant
CLNACC	RCV000020554.6, RCV000024549.1,

[PMID 10952871] A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

[PMID 12732643] Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.

[PMID 15665378] Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy.