rs104894368
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Familial hypertrophic cardiomyopathy (possible) |
| (G;G) | 0 | common in clinvar |
| Make rs104894368(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 110919133 |
| Gene | MYL2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894368 |
| dbSNP (classic) | rs104894368 |
| ClinGen | rs104894368 |
| ebi | rs104894368 |
| HLI | rs104894368 |
| Exac | rs104894368 |
| Gnomad | rs104894368 |
| Varsome | rs104894368 |
| LitVar | rs104894368 |
| Map | rs104894368 |
| PheGenI | rs104894368 |
| Biobank | rs104894368 |
| 1000 genomes | rs104894368 |
| hgdp | rs104894368 |
| ensembl | rs104894368 |
| geneview | rs104894368 |
| scholar | rs104894368 |
| rs104894368 | |
| pharmgkb | rs104894368 |
| gwascentral | rs104894368 |
| openSNP | rs104894368 |
| 23andMe | rs104894368 |
| SNPshot | rs104894368 |
| SNPdbe | rs104894368 |
| MSV3d | rs104894368 |
| GWAS Ctlg | rs104894368 |
| GMAF | 0.0 |
| 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
].
| ClinVar | |
|---|---|
| Risk | rs104894368(A;A) rs104894368(C;C) rs104894368(T;T) |
| Alt | rs104894368(A;A) rs104894368(C;C) rs104894368(T;T) |
| Reference | Rs104894368(G;G) |
| Significance | Other |
| Disease | not specified Familial hypertrophic cardiomyopathy 10 not provided Primary familial hypertrophic cardiomyopathy Death in early adulthood |
| Variation | info |
| Gene | MYL2 |
| CLNDBN | not specified Familial hypertrophic cardiomyopathy 10 not provided Primary familial hypertrophic cardiomyopathy Death in early adulthood |
| Reversed | 1 |
| HGVS | NC_000012.11:g.111356937C>A; NC_000012.11:g.111356937C>T |
| CLNSRC | Leiden Muscular Dystrophy pages (MYL2) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000158915.2, RCV000015109.29, RCV000158914.3, RCV000211732.1, RCV000234985.1, |
[PMID 8673105] Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
[PMID 12404107] Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
[PMID 21896538] Genetic basis of end-stage hypertrophic cardiomyopathy.
