CFTR c.500T>G ;(p.L167R)

Variant ID: 7-117174340-T-G

NM_000492.3(CFTR):c.500T>G;(p.L167R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Orphan missense mutations in the cystic fibrosis transmembrane conductance regulator: A three-step biological approach to establishing a correlation between genotype and phenotype.

The Journal Of Molecular Diagnostics : Jmd
Fresquet, Fleur F; Clement, Romain R; Norez, Caroline C; Sterlin, Adélaïde A; Melin, Patricia P; Becq, Frédéric F; Kitzis, Alain A; Thoreau, Vincent V; Bilan, Frédéric F
Publication Date: 2011-09

Variant appearance in text: CFTR: Leu167Arg
PubMed Link: 21708286
Variant Present in the following documents:
  • Main text
View BVdb publication page