CFTR c.875A>T ;(p.E292V)

Variant ID: 7-117180159-A-T

NM_000492.3(CFTR):c.875A>T;(p.E292V)

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:

The classification of ATP-binding cassette subfamily A member 3 mutations using the cystic fibrosis transmembrane conductance regulator classification system.

Pediatric Investigation
Denman, Laura L; Yonker, Lael M LM; Kinane, Thomas Bernard TB
Publication Date: 2018-03

Variant appearance in text: CFTR: E292V
PubMed Link: 32851225
Variant Present in the following documents:
  • Main text
  • PED4-2-17.pdf
View BVdb publication page