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rs80358249

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 1 carrier for Nemaline Myopathy 5
(T;T) 4 Nemaline Myopathy 5
ReferenceGRCh38 38.1/141
Chromosome19
Position55137176
GeneTNNT1
is asnp
is mentioned by
dbSNPrs80358249
ebirs80358249
HLIrs80358249
Exacrs80358249
Varsomers80358249
Maprs80358249
PheGenIrs80358249
hapmaprs80358249
1000 genomesrs80358249
hgdprs80358249
ensemblrs80358249
gopubmedrs80358249
geneviewrs80358249
scholarrs80358249
googlers80358249
pharmgkbrs80358249
gwascentralrs80358249
openSNPrs80358249
23andMers80358249
23andMe allrs80358249
SNP Nexus

SNPshotrs80358249
SNPdbers80358249
MSV3drs80358249
GWAS Ctlgrs80358249
Max Magnitude4
OMIM191041
Desc
Variant0001
Relatedalso
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 10952871OA-icon.png] 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.