F5 c.4972-330G>T

Variant ID: 1-169500590-C-A

NM_000130.4(F5):c.4972-330G>T

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: rs6427197
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing reveals host factors underlying critical COVID-19.

Nature
Kousathanas, Athanasios A; Pairo-Castineira, Erola E; Rawlik, Konrad K; Stuckey, Alex A; Odhams, Christopher A CA; Walker, Susan S; Russell, Clark D CD; Malinauskas, Tomas T; Wu, Yang Y; Millar, Jonathan J; Shen, Xia X; Elliott, Katherine S KS; Griffiths, Fiona F; Oosthuyzen, Wilna W; Morrice, Kirstie K; Keating, Sean S; Wang, Bo B; Rhodes, Daniel D; Klaric, Lucija L; Zechner, Marie M; Parkinson, Nick N; Siddiq, Afshan A; Goddard, Peter P; Donovan, Sally S; Maslove, David D; Nichol, Alistair A; Semple, Malcolm G MG; Zainy, Tala T; Maleady-Crowe, Fiona F; Todd, Linda L; Salehi, Shahla S; Knight, Julian J; Elgar, Greg G; Chan, Georgia G; Arumugam, Prabhu P; Patch, Christine C; Rendon, Augusto A; Bentley, David D; Kingsley, Clare C; Kosmicki, Jack A JA; Horowitz, Julie E JE; Baras, Aris A; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Justice, Anne A; Mirshahi, Tooraj T; Oetjens, Matthew M; Rader, Daniel J DJ; Ritchie, Marylyn D MD; Verma, Anurag A; Fowler, Tom A TA; Shankar-Hari, Manu M; Summers, Charlotte C; Hinds, Charles C; Horby, Peter P; Ling, Lowell L; McAuley, Danny D; Montgomery, Hugh H; Openshaw, Peter J M PJM; Elliott, Paul P; Walsh, Timothy T; Tenesa, Albert A; , ; , ; , ; Fawkes, Angie A; Murphy, Lee L; Rowan, Kathy K; Ponting, Chris P CP; Vitart, Veronique V; Wilson, James F JF; Yang, Jian J; Bretherick, Andrew D AD; Scott, Richard H RH; Hendry, Sara Clohisey SC; Moutsianas, Loukas L; Law, Andy A; Caulfield, Mark J MJ; Baillie, J Kenneth JK
Publication Date: 2022-07

Variant appearance in text: rs6427197
PubMed Link: 35255492
Variant Present in the following documents:
  • 41586_2022_4576_MOESM1_ESM.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: rs6427197
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page