CFTR c.1522_1524delinsATG ;(p.F508M)

Variant ID: 7-117199647-TTT-ATG

NM_000492.3(CFTR):c.1522_1524delinsATG;(p.F508M)

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:

Side chain and backbone contributions of Phe508 to CFTR folding.

Nature Structural & Molecular Biology
Thibodeau, Patrick H PH; Brautigam, Chad A CA; Machius, Mischa M; Thomas, Philip J PJ
Publication Date: 2005-01

Variant appearance in text: CFTR: F508M
PubMed Link: 15619636
Variant Present in the following documents:
  • Main text
View BVdb publication page