CFTR c.1767-136T>C

Variant ID: 7-117231852-T-C

NM_000492.3(CFTR):c.1767-136T>C

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: rs11978434
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: rs11978434
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Genetic variation in genes encoding airway epithelial potassium channels is associated with chronic rhinosinusitis in a pediatric population.

Plos One
Purkey, Michael T MT; Li, Jin J; Mentch, Frank F; Grant, Struan F A SF; Desrosiers, Martin M; Hakonarson, Hakon H; Toskala, Elina E
Publication Date: 2014

Variant appearance in text: rs11978434
PubMed Link: 24595210
Variant Present in the following documents:
  • Main text
  • pone.0089329.pdf
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk.

Lung Cancer (Amsterdam, Netherlands)
Li, Yafei Y; Sun, Zhifu Z; Wu, Yanhong Y; Babovic-Vuksanovic, Dusica D; Li, Yan Y; Cunningham, Julie M JM; Pankratz, Vernon S VS; Yang, Ping P
Publication Date: 2010-10

Variant appearance in text: rs11978434
PubMed Link: 20116881
Variant Present in the following documents:
  • Main text
View BVdb publication page