CFTR c.165-1588C>G

Variant ID: 7-117147500-C-G

NM_000492.3(CFTR):c.165-1588C>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2237722
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.

Journal Of Assisted Reproduction And Genetics
Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Alecci, Carmelita C; Ragolia, Carmen C; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Storaci, Giorgia G; Romano, Simona S; Guglielmino, Antonino A
Publication Date: 2020-01

Variant appearance in text: rs2237722
PubMed Link: 31828483
Variant Present in the following documents:
  • 10815_2019_Article_1635.pdf
View BVdb publication page



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: rs2237722
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: rs2237722
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page