CFTR c.2074G>T ;(p.E692*)

Variant ID: 7-117232295-G-T

NM_000492.3(CFTR):c.2074G>T;(p.E692*)

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:

Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

Journal Of Korean Medical Science
Ko, Jung Min JM; Kim, Gu-Hwan GH; Kim, Kyung Mo KM; Hong, Soo-Jong SJ; Yoo, Han-Wook HW
Publication Date: 2008-10

Variant appearance in text: CFTR: Glu692X
PubMed Link: 18955805
Variant Present in the following documents:
  • Main text
  • jkms-23-912.pdf
View BVdb publication page