CFTR c.2049_2050insT ;(p.K684*)

Variant ID: 7-117232270-A-AT

NM_000492.3(CFTR):c.2049_2050insT;(p.K684*)

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:

Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis.

Genetics And Molecular Biology
Lima, Eliandra da Silveira EDS; Pezzin, Luíse Sgarabotto LS; Fensterseifer, Ana Carolina AC; Pinto, Leonardo Araújo LA
Publication Date: 2021

Variant appearance in text: N/A
PubMed Link: 34874053
Variant Present in the following documents:
View BVdb publication page


Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis.

Genetics And Molecular Biology
Lima, Eliandra da Silveira EDS; Pezzin, Luíse Sgarabotto LS; Fensterseifer, Ana Carolina AC; Pinto, Leonardo Araújo LA
Publication Date: 2021

Variant appearance in text: N/A
PubMed Link: 34874053
Variant Present in the following documents:
View BVdb publication page