CFTR c.115_117del ;(p.Q39del)

Variant ID: 7-117144368-CCAA-C

NM_000492.3(CFTR):c.115_117del;(p.Q39del)

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:

Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Disease Markers
Cambraia, Amanda A; Junior, Mario Campos MC; Zembrzuski, Verônica Marques VM; Junqueira, Ricardo Magrani RM; Cabello, Pedro Hernán PH; de Cabello, Giselda Maria Kalil GMK
Publication Date: 2021

Variant appearance in text: CFTR: Gln39del
PubMed Link: 33613790
Variant Present in the following documents:
  • DM2021-9812074.pdf
View BVdb publication page