1G>T
1G>T · SaudiVarKB evidence summary derived from retained literature mentions.
3Variant mentions
3Publications
4Associated 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 |
| atopic dermatitis | — | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 1 | 1 |
| Saudi Arabia | Cohort 396 | 1 | 1 |
Supporting publications
3 records- 2025Immunogenetic investigation of WAS patients revealing impaired IL-6/STAT3 signaling in T cells.Frontiers in immunology1 mentions
- 2020Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.Annals of Saudi medicine1 mentions
- 2008Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions