CFTR c.3990G>A ;(p.Q1330=)

Variant ID: 7-117304768-G-A

NM_000492.3(CFTR):c.3990G>A;(p.Q1330=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.

Human Genome Variation
Vecchio-Pagán, Briana B; Blackman, Scott M SM; Lee, Melissa M; Atalar, Melis M; Pellicore, Matthew J MJ; Pace, Rhonda G RG; Franca, Arianna L AL; Raraigh, Karen S KS; Sharma, Neeraj N; Knowles, Michael R MR; Cutting, Garry R GR
Publication Date: 2016

Variant appearance in text: CFTR: Q1330Q
PubMed Link: 27917292
Variant Present in the following documents:
  • Main text
  • hgv201638.pdf
View BVdb publication page