CFTR c.1175T>G ;(p.V392G)

Variant ID: 7-117182128-T-G

NM_000492.3(CFTR):c.1175T>G;(p.V392G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.

Oman Medical Journal
Al Oraimi, Sumaya S; Al Shidhani, Khoula K; Al Harthi, Hasina H; Al Sinani, Suaad S; Al Busaidi, Nasser N; Al Bimani, Muna M; Al Salmi, Qasem Q; Al Kindi, Hussein H
Publication Date: 2022-11

Variant appearance in text: CFTR: 1175T>G; Val392Gly
PubMed Link: 36458240
Variant Present in the following documents:
  • Main text
  • OMJ-37-06-2200006.pdf
View BVdb publication page



Ivacaftor treatment of cystic fibrosis in children aged 12 to <24 months and with a CFTR gating mutation (ARRIVAL): a phase 3 single-arm study.

The Lancet. Respiratory Medicine
Rosenfeld, Margaret M; Wainwright, Claire E CE; Higgins, Mark M; Wang, Linda T LT; McKee, Charlotte C; Campbell, Daniel D; Tian, Simon S; Schneider, Jennifer J; Cunningham, Steve S; Davies, Jane C JC; ,
Publication Date: 2018-07

Variant appearance in text: CFTR: V392G
PubMed Link: 29886024
Variant Present in the following documents:
  • Main text
View BVdb publication page



Defining a mutational panel and predicting the prevalence of cystic fibrosis in oman.

Sultan Qaboos University Medical Journal
Fass, Uwe W UW; Al-Salmani, Majid M; Bendahhou, Said S; Shivalingam, Ganji G; Norrish, Catherine C; Hebal, Kallesh K; Clark, Fiona F; Heming, Thomas T; Al-Khusaiby, Saleh S
Publication Date: 2014-08

Variant appearance in text: CFTR: 1175T>G; Val392Gly
PubMed Link: 25097766
Variant Present in the following documents:
  • Main text
View BVdb publication page