p.Tyr249Cys
p.Tyr249Cys · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
7Associated gene records
1Associated phenotype records
Associated gene records
Co-mentioned in the same publicationsAssociated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| retinal dystrophy | HP:0000556 | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | Cohort 10 | 1 | 1 |
Supporting publications
1 records- 2017Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.Physiological genomics1 mentions