p.R226W
p.R226W · SaudiVarKB evidence summary derived from retained literature mentions.
2Variant mentions
2Publications
1Associated gene records
2Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| DEAF1 | HGNC:14677 | 2 | 2 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 2 | 2 |
| epilepsy | HP:0001250 | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 1 | 1 |
| Population record | — | 1 | 1 |
Supporting publications
2 records- 2016Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.American journal of medical genetics. Part APubMed ↗
- 2014Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.American journal of medical genetics. Part APubMed ↗