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rs80358248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 Nemaline Myopathy 1
(T;T) 4 Nemaline Myopathy 1
ReferenceGRCh38 38.1/141
Chromosome1
Position154191925
GeneTPM3
is asnp
is mentioned by
dbSNPrs80358248
ebirs80358248
HLIrs80358248
Exacrs80358248
Varsomers80358248
Maprs80358248
PheGenIrs80358248
hapmaprs80358248
1000 genomesrs80358248
hgdprs80358248
ensemblrs80358248
gopubmedrs80358248
geneviewrs80358248
scholarrs80358248
googlers80358248
pharmgkbrs80358248
gwascentralrs80358248
openSNPrs80358248
23andMers80358248
23andMe allrs80358248
SNP Nexus

SNPshotrs80358248
SNPdbers80358248
MSV3drs80358248
GWAS Ctlgrs80358248
Max Magnitude4
OMIM191030
Desc
Variant0004
Relatedalso
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.