CFTR c.2483A>G ;(p.D828G)

Variant ID: 7-117232704-A-G

NM_000492.3(CFTR):c.2483A>G;(p.D828G)

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:

Structural mechanisms of CFTR function and dysfunction.

The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02

Variant appearance in text: CFTR: D828G
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
View BVdb publication page