rs113358486
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| Make rs113358486(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 47333555 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113358486 |
| dbSNP (classic) | rs113358486 |
| ClinGen | rs113358486 |
| ebi | rs113358486 |
| HLI | rs113358486 |
| Exac | rs113358486 |
| Gnomad | rs113358486 |
| Varsome | rs113358486 |
| LitVar | rs113358486 |
| Map | rs113358486 |
| PheGenI | rs113358486 |
| Biobank | rs113358486 |
| 1000 genomes | rs113358486 |
| hgdp | rs113358486 |
| ensembl | rs113358486 |
| geneview | rs113358486 |
| scholar | rs113358486 |
| rs113358486 | |
| pharmgkb | rs113358486 |
| gwascentral | rs113358486 |
| openSNP | rs113358486 |
| 23andMe | rs113358486 |
| SNPshot | rs113358486 |
| SNPdbe | rs113358486 |
| MSV3d | rs113358486 |
| GWAS Ctlg | rs113358486 |
| Max Magnitude | 6.2 |
The rare minor allele of this variant is reported to be pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 23690394
] in one person. Also multiple submitters on Clinvar that consider this variant pathogenic have reported multiple individuals with this variant.
[PMID 27532257] Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
[PMID 26914223] Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
[PMID 24111713] Genetics of hypertrophic cardiomyopathy in Norway.
| ClinVar | |
|---|---|
| Risk | rs113358486(C;C) rs113358486(G;G) rs113358486(T;T) |
| Alt | rs113358486(C;C) rs113358486(G;G) rs113358486(T;T) |
| Reference | Rs113358486(A;A) |
| Significance | Pathogenic |
| Disease | Primary familial hypertrophic cardiomyopathy not provided |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Primary familial hypertrophic cardiomyopathy not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.47355106A>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000035564.5, RCV000158220.4, |
