1G>A
1G>A · SaudiVarKB evidence summary derived from retained literature mentions.
3Variant mentions
3Publications
2Associated gene records
2Associated phenotype records
Associated gene records
Co-mentioned in the same publicationsAssociated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| cystic fibrosis | — | 1 | 1 |
| hemophilia | — | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 2 | 2 |
| Saudi Arabia | Cohort 396 | 1 | 1 |
Supporting publications
3 records- 2020Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.Annals of Saudi medicine1 mentions
- 2017Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies.Journal of clinical medicine research1 mentions
- 2006Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.BMC medical genetics1 mentions