CFTR c.185_186inv ;(p.A62E)

Variant ID: 7-117149108-CT-AG

NM_000492.3(CFTR):c.185_186inv;(p.A62E)

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:

The Extrapulmonary Effects of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Cystic Fibrosis.

Annals Of The American Thoracic Society
Sergeev, Valentine V; Chou, Frank Y FY; Lam, Grace Y GY; Hamilton, Christopher Michael CM; Wilcox, Pearce G PG; Quon, Bradley S BS
Publication Date: 2020-02

Variant appearance in text: CFTR: A62E
PubMed Link: 31661636
Variant Present in the following documents:
  • Main text
View BVdb publication page