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rs199474720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199474720(A;C)
Make rs199474720(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position154167938
GeneTPM3
is asnp
is mentioned by
dbSNPrs199474720
ebirs199474720
HLIrs199474720
Exacrs199474720
Varsomers199474720
Maprs199474720
PheGenIrs199474720
hapmaprs199474720
1000 genomesrs199474720
hgdprs199474720
ensemblrs199474720
gopubmedrs199474720
geneviewrs199474720
scholarrs199474720
googlers199474720
pharmgkbrs199474720
gwascentralrs199474720
openSNPrs199474720
23andMers199474720
23andMe allrs199474720
SNP Nexus

SNPshotrs199474720
SNPdbers199474720
MSV3drs199474720
GWAS Ctlgrs199474720
Max Magnitude0
ClinVar
Risk rs199474720(C;C)
Alt rs199474720(C;C)
Reference rs199474720(A;A)
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.154140414T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013260.27, RCV000128708.1,


[PMID 12196661] Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.

[PMID 19953533OA-icon.png] Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.