CFTR c.1069G>A ;(p.A357T)

Variant ID: 7-117180353-G-A

NM_000492.3(CFTR):c.1069G>A;(p.A357T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.

Scientific Reports
Qu, Xiaowei X; Li, Lingyi L; Cui, Chenchen C; Feng, Ke K; Xia, Yanqing Y; Wan, Feng F; Zhang, Cuilian C; Guo, Haibin H
Publication Date: 2023-01-05

Variant appearance in text: CFTR: 1069G>A; Ala357Thr
PubMed Link: 36604502
Variant Present in the following documents:
  • 41598_2022_26384_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: 1069G>A; A357T
PubMed Link: 36458240
Variant Present in the following documents:
  • Main text
  • OMJ-37-06-2200006.pdf
View BVdb publication page



A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report.

Oman Medical Journal
Al Balushi, Said S; Al Balushi, Younis Y; Al Busaidi, Moza M; Al Mutawa, Latifa L
Publication Date: 2021-03

Variant appearance in text: CFTR: A357T
PubMed Link: 33854794
Variant Present in the following documents:
  • Main text
  • OMJ-36-02-2000004.pdf
View BVdb publication page



Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Andrology
de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S
Publication Date: 2018-01

Variant appearance in text: CFTR: Ala357Thr
PubMed Link: 29216686
Variant Present in the following documents:
  • Main text
View BVdb publication page