rs111729952
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (G;T) | 6 | Familial hypertrophic cardiomyopathy (possible) |
| (T;T) | 0 | common in clinvar |
| Make rs111729952(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 47337796 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111729952 |
| dbSNP (classic) | rs111729952 |
| ClinGen | rs111729952 |
| ebi | rs111729952 |
| HLI | rs111729952 |
| Exac | rs111729952 |
| Gnomad | rs111729952 |
| Varsome | rs111729952 |
| LitVar | rs111729952 |
| Map | rs111729952 |
| PheGenI | rs111729952 |
| Biobank | rs111729952 |
| 1000 genomes | rs111729952 |
| hgdp | rs111729952 |
| ensembl | rs111729952 |
| geneview | rs111729952 |
| scholar | rs111729952 |
| rs111729952 | |
| pharmgkb | rs111729952 |
| gwascentral | rs111729952 |
| openSNP | rs111729952 |
| 23andMe | rs111729952 |
| SNPshot | rs111729952 |
| SNPdbe | rs111729952 |
| MSV3d | rs111729952 |
| GWAS Ctlg | rs111729952 |
| Max Magnitude | 6.2 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
[PMID 27483260] A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
[PMID 27600940] Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
[PMID 25740977] A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.
[PMID 24704860] Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.
[PMID 21302287] Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.
[PMID 15519027]Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
| ClinVar | |
|---|---|
| Risk | rs111729952(C;C) rs111729952(G;G) |
| Alt | rs111729952(C;C) rs111729952(G;G) |
| Reference | Rs111729952(T;T) |
| Significance | Other |
| Disease | not provided Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | not provided Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000011.9:g.47359347T>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000158149.3, RCV000211804.2, RCV000242393.1, RCV000469704.1, |
