CFTR c.985A>T ;(p.K329*)

Variant ID: 7-117180269-A-T

NM_000492.3(CFTR):c.985A>T;(p.K329*)

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:

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: CFTR: 985A>T; Lys329*
PubMed Link: 33262486
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_741.pdf
View BVdb publication page