CFTR c.1585-13322T>G

Variant ID: 7-117214471-T-G

NM_000492.3(CFTR):c.1585-13322T>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation.

Scientific Reports
Zeevi, David A DA; Zahdeh, Fouad F; Kling, Yehuda Y; Rosen, Tzvia T; Renbaum, Paul P; Ron-El, Raphael R; Eldar-Geva, Talia T; Holzer, Hananel E G HEG; Levy-Lahad, Ephrat E; Altarescu, Gheona G
Publication Date: 2018-10-29

Variant appearance in text: rs17547485
PubMed Link: 30374031
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_34396.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs17547485
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page