rs28941779
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 9 | Frasier syndrome mutation |
| (T;T) | 0 | common in clinvar |
| Make rs28941779(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 32392026 |
| Gene | WT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28941779 |
| dbSNP (classic) | rs28941779 |
| ClinGen | rs28941779 |
| ebi | rs28941779 |
| HLI | rs28941779 |
| Exac | rs28941779 |
| Gnomad | rs28941779 |
| Varsome | rs28941779 |
| LitVar | rs28941779 |
| Map | rs28941779 |
| PheGenI | rs28941779 |
| Biobank | rs28941779 |
| 1000 genomes | rs28941779 |
| hgdp | rs28941779 |
| ensembl | rs28941779 |
| geneview | rs28941779 |
| scholar | rs28941779 |
| rs28941779 | |
| pharmgkb | rs28941779 |
| gwascentral | rs28941779 |
| openSNP | rs28941779 |
| 23andMe | rs28941779 |
| SNPshot | rs28941779 |
| SNPdbe | rs28941779 |
| MSV3d | rs28941779 |
| GWAS Ctlg | rs28941779 |
| Max Magnitude | 9 |
rs28941779, also known as Phe392Leu or F392L, is a SNP in the WT1 gene on chromosome 11.
A report links a mutation at this SNP to the rare disease known as Frasier syndrome, which has similarities to Denys-Drash syndrome, no doubt in part since both are based on mutations in the WT1 gene.[PMID 10571943]
See also OMIM 607102.0025
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249
]
| ClinVar | |
|---|---|
| Risk | rs28941779(C;C) |
| Alt | rs28941779(C;C) |
| Reference | Rs28941779(T;T) |
| Significance | Pathogenic |
| Disease | Frasier syndrome |
| Variation | info |
| Gene | WT1 |
| CLNDBN | Frasier syndrome |
| Reversed | 1 |
| HGVS | NC_000011.9:g.32413572A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003679.3, |
