p.Lys869Ter
p.Lys869Ter · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
1Associated gene records
2Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| SCAPER | HGNC:13081 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
| retinitis pigmentosa | — | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | — | 1 | 1 |
Supporting publications
1 records- 2025Identification of a Protein-truncating Variant in SCAPER Gene Causing Syndromic form of Intellectual Disability.Current medicinal chemistryPubMed ↗