CFTR c.952_954del ;(p.V318del)

Variant ID: 7-117180232-TGTG-T

NM_000492.3(CFTR):c.952_954del;(p.V318del)

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:

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.

Scientific Reports
Wedenoja, Satu S; Khamaysi, Ahlam A; Shimshilashvili, Liana L; Anbtawe-Jomaa, Shireen S; Elomaa, Outi O; Toppari, Jorma J; Höglund, Pia P; Aittomäki, Kristiina K; Holmberg, Christer C; Hovatta, Outi O; Tapanainen, Juha S JS; Ohana, Ehud E; Kere, Juha J
Publication Date: 2017-10-27

Variant appearance in text: CFTR: 949_951delGTG; V318del
PubMed Link: 29079751
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_14606.pdf
View BVdb publication page