CFTR c.769G>T ;(p.E257*)

Variant ID: 7-117176627-G-T

NM_000492.3(CFTR):c.769G>T;(p.E257*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Tensin 1 (TNS1) is a modifier gene for low body mass index (BMI) in homozygous [F508del]CFTR patients.

Physiological Reports
Walton, Nathan I NI; Zhang, Xijun X; Soltis, Anthony R AR; Starr, Joshua J; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Conrad, Douglas D; Pollard, Harvey B HB
Publication Date: 2021-06

Variant appearance in text: CFTR: E257X
PubMed Link: 34086412
Variant Present in the following documents:
  • PHY2-9-e14886-s002.pdf
View BVdb publication page