rs193922680
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | left ventricular noncompaction (reported); possible familial hypertrophic cardiomyopathy |
| (G;G) | 0 | common in clinvar |
| Make rs193922680(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 34793398 |
| Gene | ACTC1, LOC101928174 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922680 |
| dbSNP (classic) | rs193922680 |
| ClinGen | rs193922680 |
| ebi | rs193922680 |
| HLI | rs193922680 |
| Exac | rs193922680 |
| Gnomad | rs193922680 |
| Varsome | rs193922680 |
| LitVar | rs193922680 |
| Map | rs193922680 |
| PheGenI | rs193922680 |
| Biobank | rs193922680 |
| 1000 genomes | rs193922680 |
| hgdp | rs193922680 |
| ensembl | rs193922680 |
| geneview | rs193922680 |
| scholar | rs193922680 |
| rs193922680 | |
| pharmgkb | rs193922680 |
| gwascentral | rs193922680 |
| openSNP | rs193922680 |
| 23andMe | rs193922680 |
| SNPshot | rs193922680 |
| SNPdbe | rs193922680 |
| MSV3d | rs193922680 |
| GWAS Ctlg | rs193922680 |
| Max Magnitude | 6 |
rs193922680, also known as c.301G>A, p.Glu101Lys and E101K, is a rare mutation in the ACTC1 gene on chromosome 15.
Inherited as an autosomal dominant, it reportedly leads to a form of left ventricular noncompaction.
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
See OMIM 102540.0009
| ClinVar | |
|---|---|
| Risk | rs193922680(A;A) |
| Alt | rs193922680(A;A) |
| Reference | Rs193922680(G;G) |
| Significance | Other |
| Disease | Familial hypertrophic cardiomyopathy 11 Left ventricular noncompaction 4 Primary familial hypertrophic cardiomyopathy not provided |
| Variation | info |
| Gene | ACTC1 LOC101928174 RP11-814P5.1 |
| CLNDBN | Familial hypertrophic cardiomyopathy 11 Left ventricular noncompaction 4 Primary familial hypertrophic cardiomyopathy not provided |
| Reversed | 1 |
| HGVS | NC_000015.9:g.35085599C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019996.31, RCV000019997.27, RCV000029295.3, RCV000157780.3, |
[PMID 20497] Mechanism of isoproterenol-induced desensitization of tracheal smooth muscle.
[PMID 16267253] Gene mutations in apical hypertrophic cardiomyopathy.
[PMID 17623677] Apical hypertrophic cardiomyopathy or left ventricular non-compaction? A difficult differential diagnosis.
[PMID 17916152] Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics.
[PMID 18519860] Sarcomere mutations in cardiomyopathy, noncompaction, and the developing heart.
[PMID 18801786] Apical hypertrophic cardiomyopathy and left ventricular non-compaction: two faces of the same disease.
