p.Glu465Ala
p.Glu465Ala · 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 |
|---|---|---|---|
| VANGL2 | HGNC:15511 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| hearing loss | HP:0000365 | 1 | 1 |
| congenital heart disease | — | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsNo retained population associations.
Supporting publications
1 records- 2024Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.Human molecular genetics1 mentions