CFTR c.3874-200G>A

Variant ID: 7-117292696-G-A

NM_000492.3(CFTR):c.3874-200G>A

This variant was identified in 3 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: rs214164
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: rs214164
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A haplotype framework for cystic fibrosis mutations in Iran.

The Journal Of Molecular Diagnostics : Jmd
Elahi, Elahe E; Khodadad, Ahmad A; Kupershmidt, Ilya I; Ghasemi, Fereshteh F; Alinasab, Babak B; Naghizadeh, Ramin R; Eason, Robert G RG; Amini, Mahshid M; Esmaili, Mehran M; Esmaeili Dooki, Mohammad R MR; Sanati, Mohammad H MH; Davis, Ronald W RW; Ronaghi, Mostafa M; Thorstenson, Yvonne R YR
Publication Date: 2006-02

Variant appearance in text: rs214164
PubMed Link: 16436643
Variant Present in the following documents:
  • Main text
View BVdb publication page