I1234V
I1234V · SaudiVarKB evidence summary derived from retained literature mentions.
4Variant mentions
4Publications
1Associated gene records
1Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| CFTR | HGNC:1884 | 2 | 2 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| cystic fibrosis | — | 4 | 4 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | Cohort 70 | 1 | 1 |
Supporting publications
4 records- 2025Clinical efficacy of elexacaftor-tezacaftor-ivacaftor in two siblings with homozygous I1234V mutation cystic fibrosis: A prospective case series.Respiratory medicine case reports1 mentions
- 2009Sweat chloride concentration in cystic fibrosis patients with cystic fibrosis trans-membrane conductance regulator I1234V mutation.Saudi medical journal1 mentions
- 2004Achromobacter xylosoxidans isolated from the sputum of a patient with cystic fibrosis mutation I1234V with Pseudomonas aeruginosa.Saudi medical journal1 mentions
- 1999Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia.Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit1 mentions