c.1349A>G
c.1349A>G · SaudiVarKB evidence summary derived from retained literature mentions.
1Variant mentions
1Publications
1Associated gene records
1Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| COL9A1 | HGNC:2217 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| hearing loss | HP:0000365 | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsNo retained population associations.
Supporting publications
1 records- 2023FAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1.Retinal cases & brief reports1 mentions