CFTR c.2694T>G ;(p.S898R)

Variant ID: 7-117243622-T-G

NM_000492.3(CFTR):c.2694T>G;(p.S898R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.

The Indian Journal Of Medical Research
Gajbhiye, Rahul R; Kadam, Kaushiki K; Khole, Aalok A; Gaikwad, Avinash A; Kadam, Seema S; Shah, Rupin R; Kumaraswamy, Rangaswamy R; Khole, Vrinda V
Publication Date: 2016-05

Variant appearance in text: CFTR: 2694T>G
PubMed Link: 27488005
Variant Present in the following documents:
  • Main text
  • IJMR-143-616.pdf
View BVdb publication page



A haplotype framework for cystic fibrosis mutations in Iran.

The Journal Of Molecular Diagnostics : Jmd
Elahi, Elahe E; Khodadad, Ahmad A; Kupershmidt, Ilya I; Ghasemi, Fereshteh F; Alinasab, Babak B; Naghizadeh, Ramin R; Eason, Robert G RG; Amini, Mahshid M; Esmaili, Mehran M; Esmaeili Dooki, Mohammad R MR; Sanati, Mohammad H MH; Davis, Ronald W RW; Ronaghi, Mostafa M; Thorstenson, Yvonne R YR
Publication Date: 2006-02

Variant appearance in text: CFTR: 2694T>G
PubMed Link: 16436643
Variant Present in the following documents:
  • Main text
View BVdb publication page