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rs80358247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 4 Nemaline Myopathy 1
(G;T) 2 Nemaline Myopathy 1
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position154191993
GeneTPM3
is asnp
is mentioned by
dbSNPrs80358247
ebirs80358247
HLIrs80358247
Exacrs80358247
Varsomers80358247
Maprs80358247
PheGenIrs80358247
hapmaprs80358247
1000 genomesrs80358247
hgdprs80358247
ensemblrs80358247
gopubmedrs80358247
geneviewrs80358247
scholarrs80358247
googlers80358247
pharmgkbrs80358247
gwascentralrs80358247
openSNPrs80358247
23andMers80358247
23andMe allrs80358247
SNP Nexus

SNPshotrs80358247
SNPdbers80358247
MSV3drs80358247
GWAS Ctlgrs80358247
Max Magnitude4
OMIM191030
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80358247(G;G)
Alt rs80358247(G;G)
Reference rs80358247(T;T)
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.154164469A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013259.17, RCV000128695.1,


[PMID 7663526] A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1.


[PMID 7704029] A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.


[PMID 10587521OA-icon.png] A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.


[PMID 15562513] An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.


[PMID 11106625OA-icon.png] Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.


[PMID 11964245OA-icon.png] Tropomyosin requires an intact N-terminal coiled coil to interact with tropomodulin.


[PMID 12163017] Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy.


[PMID 18716557OA-icon.png] Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.