CFTR c.1678A>T ;(p.R560*)

Variant ID: 7-117227886-A-T

NM_000492.3(CFTR):c.1678A>T;(p.R560*)

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:

Sensing through Non-Sensing Ocular Ion Channels.

International Journal Of Molecular Sciences
Kabra, Meha M; Pattnaik, Bikash Ranjan BR
Publication Date: 2020-09-21

Variant appearance in text: CFTR: R560X
PubMed Link: 32967234
Variant Present in the following documents:
  • Main text
  • ijms-21-06925.pdf
View BVdb publication page