rs80338831
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs80338831(C;C) |
| Make rs80338831(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 36292060 |
| Gene | MYH9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338831 |
| dbSNP (classic) | rs80338831 |
| ClinGen | rs80338831 |
| ebi | rs80338831 |
| HLI | rs80338831 |
| Exac | rs80338831 |
| Gnomad | rs80338831 |
| Varsome | rs80338831 |
| LitVar | rs80338831 |
| Map | rs80338831 |
| PheGenI | rs80338831 |
| Biobank | rs80338831 |
| 1000 genomes | rs80338831 |
| hgdp | rs80338831 |
| ensembl | rs80338831 |
| geneview | rs80338831 |
| scholar | rs80338831 |
| rs80338831 | |
| pharmgkb | rs80338831 |
| gwascentral | rs80338831 |
| openSNP | rs80338831 |
| 23andMe | rs80338831 |
| SNPshot | rs80338831 |
| SNPdbe | rs80338831 |
| MSV3d | rs80338831 |
| GWAS Ctlg | rs80338831 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338831(A;A) rs80338831(C;C) rs80338831(T;T) |
| Alt | rs80338831(A;A) rs80338831(C;C) rs80338831(T;T) |
| Reference | Rs80338831(G;G) |
| Significance | Pathogenic |
| Disease | MYH9 related disorders Fechtner syndrome May-Hegglin anomaly Macrothrombocytopenia and progressive sensorineural deafness Sebastian syndrome |
| Variation | info |
| Gene | MYH9 |
| CLNDBN | MYH9 related disorders Fechtner syndrome May-Hegglin anomaly Macrothrombocytopenia and progressive sensorineural deafness Sebastian syndrome |
| Reversed | 1 |
| HGVS | NC_000022.10:g.36688106C>A; NC_000022.10:g.36688106C>G; NC_000022.10:g.36688106C>T |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000032224.1, RCV000015123.26, RCV000032223.1, RCV000015134.26, RCV000015135.26, RCV000015136.26, RCV000015137.22, RCV000032222.1, |
[PMID 10973259] Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
[PMID 11093280] Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.
[PMID 11159552] Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).
[PMID 11590545
] Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
[PMID 12621333] Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.
[PMID 12649151] Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
