I1234V
· 5 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | I1234V | “Clinical efficacy of elexacaftor-tezacaftor-ivacaftor in two siblings with homozygous I1234V mutation cystic fibrosis: A prospective case series.” | 0.82 | literature_variant_regex_v2 |
| variant | I1234V | “Sweat chloride concentration in cystic fibrosis patients with cystic fibrosis trans-membrane conductance regulator I1234V mutation.” | 0.82 | literature_variant_regex_v2 |
| variant | I1234V | “Achromobacter xylosoxidans isolated from the sputum of a patient with cystic fibrosis mutation I1234V with Pseudomonas aeruginosa.” | 0.82 | literature_variant_regex_v2 |
| variant | I1234V | “The most common Saudi mutations were 1548delG and I1234V.” | 0.82 | literature_variant_regex_v2 |
| variant | I1234V | “Pancreatic insufficiency (PI) was found in the following mutations: 1548delG in exon 10 (15%) which occurred mainly in native Saudi patients in the central province; 3120 + 1G-->A in intron 16 (10%) and H139L in exon 4 (7%), found mainly in native Saudis from the eastern province; delta F508 mutation (13%) which occurred mainly in expatriates of Middle Eastern origin from different provinces; L117X in exon 19 (2%); G115X in exon 4 (2%); 711 + 1G-->A in intron 5 (2%); N 1303K in exon 21 (2%) and 425del42 in exon 4 (1%); I1234V in exon 19 (13%) with a predominance of nasal polyps and a variable degree of PI and lung disease; R553X in exon 11 (1%), with electrolyte imbalance; and S549R in 11 (2%) with pancreatic sufficiency and minimal pulmonary disease.” | 0.82 | literature_variant_regex_v2 |