rs36211723
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Familial hypertrophic cardiomyopathy (possible); but 23andMe v4 data is miscall-prone |
| (G;G) | 0 | common in clinvar |
| Make rs36211723(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 47338520 |
| Gene | MYBPC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs36211723 |
| dbSNP (classic) | rs36211723 |
| ClinGen | rs36211723 |
| ebi | rs36211723 |
| HLI | rs36211723 |
| Exac | rs36211723 |
| Gnomad | rs36211723 |
| Varsome | rs36211723 |
| LitVar | rs36211723 |
| Map | rs36211723 |
| PheGenI | rs36211723 |
| Biobank | rs36211723 |
| 1000 genomes | rs36211723 |
| hgdp | rs36211723 |
| ensembl | rs36211723 |
| geneview | rs36211723 |
| scholar | rs36211723 |
| rs36211723 | |
| pharmgkb | rs36211723 |
| gwascentral | rs36211723 |
| openSNP | rs36211723 |
| 23andMe | rs36211723 |
| SNPshot | rs36211723 |
| SNPdbe | rs36211723 |
| MSV3d | rs36211723 |
| GWAS Ctlg | rs36211723 |
| Max Magnitude | 6 |
Also known as c.2308G>A, p.Asp770Asn or D770N, the rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
[PMID 29997392] Without naming the companies that produced the data, this paper cites two examples of a false positive finding for this SNP in direct-to-consumer genotyping data.
| ClinVar | |
|---|---|
| Risk | rs36211723(A;A) rs36211723(C;C) |
| Alt | rs36211723(A;A) rs36211723(C;C) |
| Reference | Rs36211723(G;G) |
| Significance | Pathogenic |
| Disease | Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 Cardiovascular phenotype |
| Variation | info |
| Gene | MYBPC3 |
| CLNDBN | Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 4 Cardiovascular phenotype |
| Reversed | 1 |
| HGVS | NC_000011.9:g.47360071C>G; NC_000011.9:g.47360071C>T |
| CLNSRC | Children's Hospital of Eastern Ontario |
| CLNACC | RCV000461880.1, RCV000030282.4, RCV000161126.5, RCV000205565.2, RCV000252505.1, |
[PMID 15519027] Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
[PMID 16858239] A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.
[PMID 18273486] MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India.
[PMID 18533079] Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
