FASTKD3 c.1439-10T>A

Variant ID: 5-7866106-A-T

NM_024091.3(FASTKD3):c.1439-10T>A

This variant was identified in 5 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: rs17184211
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: rs17184211
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget
Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2017-11-24

Variant appearance in text: FASTKD3: 1439-10T>A; rs17184211
PubMed Link: 29254223
Variant Present in the following documents:
  • oncotarget-08-102033-s003.xlsx, sheet 1
View BVdb publication page



A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.

International Journal Of Pediatric Otorhinolaryngology
Widdershoven, Josine C C JC; Bowser, Mark M; Sheridan, Molly B MB; McDonald-McGinn, Donna M DM; Zackai, Elaine H EH; Solot, Cynthia B CB; Kirschner, Richard E RE; Beemer, Frits A FA; Morrow, Bernice E BE; Devoto, Marcella M; Emanuel, Beverly S BS
Publication Date: 2013-01

Variant appearance in text: rs17184211
PubMed Link: 23121717
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in mitochondrial genes and prostate cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wang, Liang L; McDonnell, Shannon K SK; Hebbring, Scott J SJ; Cunningham, Julie M JM; St Sauver, Jennifer J; Cerhan, James R JR; Isaya, Grazia G; Schaid, Daniel J DJ; Thibodeau, Stephen N SN
Publication Date: 2008-12

Variant appearance in text: rs17184211
PubMed Link: 19064571
Variant Present in the following documents:
  • Main text
View BVdb publication page