rs74435397
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a mutation for Bowen-Conradi syndrome |
| (G;G) | 9 | Bowen-Conradi syndrome (predicted) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6974427 |
| Gene | EMG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74435397 |
| dbSNP (classic) | rs74435397 |
| ClinGen | rs74435397 |
| ebi | rs74435397 |
| HLI | rs74435397 |
| Exac | rs74435397 |
| Gnomad | rs74435397 |
| Varsome | rs74435397 |
| LitVar | rs74435397 |
| Map | rs74435397 |
| PheGenI | rs74435397 |
| Biobank | rs74435397 |
| 1000 genomes | rs74435397 |
| hgdp | rs74435397 |
| ensembl | rs74435397 |
| geneview | rs74435397 |
| scholar | rs74435397 |
| rs74435397 | |
| pharmgkb | rs74435397 |
| gwascentral | rs74435397 |
| openSNP | rs74435397 |
| 23andMe | rs74435397 |
| SNPshot | rs74435397 |
| SNPdbe | rs74435397 |
| MSV3d | rs74435397 |
| GWAS Ctlg | rs74435397 |
| Max Magnitude | 9 |
rs74435397, also known as c.257A>G, p.Asp86Gly and D86G, represents a rare variant in the EMG1 gene located on chromosome 12.
When inherited recessively (i.e. in two copies), the D86G mutation, represented as rs74435397(G), is the cause of Bowen-Conradi syndrome, a disorder observed primarily in Hutterite families, with an estimated birth prevalence of 1/355.[PMID 19463982
]
| ClinVar | |
|---|---|
| Risk | Rs74435397(G;G) |
| Alt | Rs74435397(G;G) |
| Reference | Rs74435397(A;A) |
| Significance | Pathogenic |
| Disease | Bowen-Conradi syndrome |
| Variation | info |
| Gene | EMG1 |
| CLNDBN | Bowen-Conradi syndrome |
| Reversed | 0 |
| HGVS | NC_000012.11:g.7083589A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000938.2, |
