rs104894504
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs104894504(C;C) |
| Make rs104894504(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 63057028 |
| Gene | TPM1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894504 |
| dbSNP (classic) | rs104894504 |
| ClinGen | rs104894504 |
| ebi | rs104894504 |
| HLI | rs104894504 |
| Exac | rs104894504 |
| Gnomad | rs104894504 |
| Varsome | rs104894504 |
| LitVar | rs104894504 |
| Map | rs104894504 |
| PheGenI | rs104894504 |
| Biobank | rs104894504 |
| 1000 genomes | rs104894504 |
| hgdp | rs104894504 |
| ensembl | rs104894504 |
| geneview | rs104894504 |
| scholar | rs104894504 |
| rs104894504 | |
| pharmgkb | rs104894504 |
| gwascentral | rs104894504 |
| openSNP | rs104894504 |
| 23andMe | rs104894504 |
| SNPshot | rs104894504 |
| SNPdbe | rs104894504 |
| MSV3d | rs104894504 |
| GWAS Ctlg | rs104894504 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104894504(C;C) |
| Alt | rs104894504(C;C) |
| Reference | Rs104894504(T;T) |
| Significance | Pathogenic |
| Disease | Familial hypertrophic cardiomyopathy 3 not provided Primary familial hypertrophic cardiomyopathy |
| Variation | info |
| Gene | TPM1 |
| CLNDBN | Familial hypertrophic cardiomyopathy 3 not provided Primary familial hypertrophic cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000015.9:g.63349227T>C |
| CLNSRC | Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant |
| CLNACC | RCV000013273.24, RCV000159356.1, RCV000211870.1, |
[PMID 11136687] Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis.
[PMID 12858563] Molecular epidemiology of hypertrophic cardiomyopathy.
