rs104894503
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Familial hypertrophic cardiomyopathy (possible) |
| (G;G) | 0 | common in clinvar |
| Make rs104894503(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 63060899 |
| Gene | TPM1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894503 |
| dbSNP (classic) | rs104894503 |
| ClinGen | rs104894503 |
| ebi | rs104894503 |
| HLI | rs104894503 |
| Exac | rs104894503 |
| Gnomad | rs104894503 |
| Varsome | rs104894503 |
| LitVar | rs104894503 |
| Map | rs104894503 |
| PheGenI | rs104894503 |
| Biobank | rs104894503 |
| 1000 genomes | rs104894503 |
| hgdp | rs104894503 |
| ensembl | rs104894503 |
| geneview | rs104894503 |
| scholar | rs104894503 |
| rs104894503 | |
| pharmgkb | rs104894503 |
| gwascentral | rs104894503 |
| openSNP | rs104894503 |
| 23andMe | rs104894503 |
| SNPshot | rs104894503 |
| SNPdbe | rs104894503 |
| MSV3d | rs104894503 |
| GWAS Ctlg | rs104894503 |
| Merged from | Rs28934270 |
| Max Magnitude | 6 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
This mutation is reported to be one of the four most common HCM-associated in Finland.
| 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 Hypertrophic cardiomyopathy |
| Variation | info |
| Gene | TPM1 |
| CLNDBN | Familial hypertrophic cardiomyopathy 3 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000015.9:g.63353098G>A |
| CLNSRC | Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013272.24, RCV000036340.5, RCV000159366.2, RCV000474684.1, |
[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 8774330] 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 18403758] 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.
