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CFTR c.3064del ;(p.V1022*)
Variant ID: 7-117250648-AG-A
NM_000492.3(
CFTR
):c.3064del;(p.V1022*)
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:
WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient.
The Journal Of Molecular Diagnostics : Jmd
des Georges, Marie M; Guittard, Caroline C; Templin, Carine C; AltiƩri, Jean-Pierre JP; de Carvalho, Candice C; Ramsay, Michele M; Claustres, Mireille M
Publication Date: 2008-11
Variant appearance in text: CFTR: 3064del
PubMed Link:
18832460
Variant Present in the following documents:
Main text
View BVdb publication page