CFTR c.1588A>G ;(p.I530V)

Variant ID: 7-117227796-A-G

NM_000492.3(CFTR):c.1588A>G;(p.I530V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Frontiers In Genetics
Chunn, Lauren M LM; Nefcy, Diane C DC; Scouten, Rachel W RW; Tarpey, Ryan P RP; Chauhan, Gurinder G; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ; Schwartz, Steven A SA; Kiel, Mark J MJ
Publication Date: 2020

Variant appearance in text: CFTR: I530V
PubMed Link: 33281875
Variant Present in the following documents:
  • Main text
View BVdb publication page