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CFTR c.53+9290A>G
Variant ID: 7-117129491-A-G
NM_000492.3(
CFTR
):c.53+9290A>G
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: rs17139943
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: rs17139943
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
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: rs17139943
PubMed Link:
20116881
Variant Present in the following documents:
Main text
View BVdb publication page