CFTR c.1514A>T ;(p.N505I)

Variant ID: 7-117199639-A-T

NM_000492.3(CFTR):c.1514A>T;(p.N505I)

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:

Formation of a Chloride-conducting State in the Maltose ATP-binding Cassette (ABC) Transporter.

The Journal Of Biological Chemistry
Carlson, Michael L ML; Bao, Huan H; Duong, Franck F
Publication Date: 2016-06-03

Variant appearance in text: CFTR: N505I
PubMed Link: 27059961
Variant Present in the following documents:
  • Main text
View BVdb publication page