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rs104894503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894503(A;A)
Make rs104894503(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position63060899
GeneTPM1
is asnp
is mentioned by
dbSNPrs104894503
ebirs104894503
HLIrs104894503
Exacrs104894503
Varsomers104894503
Maprs104894503
PheGenIrs104894503
hapmaprs104894503
1000 genomesrs104894503
hgdprs104894503
ensemblrs104894503
gopubmedrs104894503
geneviewrs104894503
scholarrs104894503
googlers104894503
pharmgkbrs104894503
gwascentralrs104894503
openSNPrs104894503
23andMers104894503
23andMe allrs104894503
SNP Nexus

SNPshotrs104894503
SNPdbers104894503
MSV3drs104894503
GWAS Ctlgrs104894503
Merged fromRs28934270
Max Magnitude0
OMIM191010
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894503(A;A)
Alt rs104894503(A;A)
Reference rs104894503(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 3 Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene TPM1
CLNDBN Familial hypertrophic cardiomyopathy 3 Primary familial hypertrophic cardiomyopathy not provided
Reversed 0
HGVS NC_000015.9:g.63353098G>A
CLNSRC Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant
CLNACC RCV000013272.24, RCV000036340.5, RCV000159366.1,


[PMID 7787263] The molecular genetics of cardiovascular disease.


[PMID 9742053] Familial hypertrophic cardiomyopathy: from mutations to functional defects.


[PMID 9822100] The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.


[PMID 10444398] Functional changes in troponin T by a splice donor site mutation that causes hypertrophic cardiomyopathy.


[PMID 10900175] Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha -tropomyosin (Asp175Asn and Glu180Gly) on the regulatory properties of human cardiac troponin determined by in vitro motility assay.


[PMID 15479242] Effects of cardiomyopathic mutations on the biochemical and biophysical properties of the human alpha-tropomyosin.


[PMID 7729014] A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy.


[PMID 7898523] Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.


[PMID 8205619] Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.


[PMID 8523464] Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy.


[PMID 8774330OA-icon.png] Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene.


[PMID 9060904] Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene.


[PMID 9440709] A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity.


[PMID 11968089] Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.


[PMID 14734051] Inducibility of life-threatening ventricular arrhythmias is related to maximum left ventricular thickness and clinical markers of sudden cardiac death in patients with hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene.


[PMID 16014439] Cine MR imaging of myocardial contractile impairment in patients with hypertrophic cardiomyopathy attributable to Asp175Asn mutation in the alpha-tropomyosin gene.


[PMID 16504640] Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes.


[PMID 18403758OA-icon.png] Shared genetic causes of cardiac hypertrophy in children and adults.


[PMID 19035361] Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.