CFTR c.2203A>T ;(p.R735W)

Variant ID: 7-117232424-A-T

NM_000492.3(CFTR):c.2203A>T;(p.R735W)

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:

Stepwise ABC system for classification of any type of genetic variant.

European Journal Of Human Genetics : Ejhg
Houge, Gunnar G; Laner, Andreas A; Cirak, Sebahattin S; de Leeuw, Nicole N; Scheffer, Hans H; den Dunnen, Johan T JT
Publication Date: 2021-05-13

Variant appearance in text: CFTR: Arg735Trp
PubMed Link: 33981013
Variant Present in the following documents:
  • Main text
View BVdb publication page