CFTR c.2592_2593del ;(p.I864Mfs*31)

Variant ID: 7-117235083-ATT-A

NM_000492.3(CFTR):c.2592_2593del;(p.I864Mfs*31)

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:

Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Journal Of Medical Biochemistry
Ivády, Gergely G; Koczok, Katalin K; Madar, Laszlo L; Gombos, Eva E; Toth, Izabella I; Gyori, Klaudia K; Balogh, István I
Publication Date: 2015-01

Variant appearance in text: CFTR: 2591_2592delTT
PubMed Link: 28356823
Variant Present in the following documents:
  • Main text
  • jomb-2014-0055.pdf
View BVdb publication page