CFTR c.1067G>A ;(p.W356*)

Variant ID: 7-117180351-G-A

NM_000492.3(CFTR):c.1067G>A;(p.W356*)

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:

Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

European Journal Of Human Genetics : Ejhg
Sobczyńska-Tomaszewska, Agnieszka A; Ołtarzewski, Mariusz M; Czerska, Kamila K; Wertheim-Tysarowska, Katarzyna K; Sands, Dorota D; Walkowiak, Jarosław J; Bal, Jerzy J; Mazurczak, Tadeusz T; ,
Publication Date: 2013-04

Variant appearance in text: CFTR: Trp356X
PubMed Link: 22892530
Variant Present in the following documents:
  • Main text
View BVdb publication page