OR51I2 c.-231+1152G>A

Variant ID: 11-5471746-G-A

NM_001004754.3(OR51I2):c.-231+1152G>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: rs7948471
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

Nature Communications
Southam, Lorraine L; Gilly, Arthur A; Süveges, Dániel D; Farmaki, Aliki-Eleni AE; Schwartzentruber, Jeremy J; Tachmazidou, Ioanna I; Matchan, Angela A; Rayner, Nigel W NW; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Xue, Yali Y; Dedoussis, George G; Zeggini, Eleftheria E
Publication Date: 2017-05-26

Variant appearance in text: rs7948471
PubMed Link: 28548082
Variant Present in the following documents:
  • ncomms15606-s1.pdf
View BVdb publication page



Genetic determinants of haemolysis in sickle cell anaemia.

British Journal Of Haematology
Milton, Jacqueline N JN; Rooks, Helen H; Drasar, Emma E; McCabe, Elizabeth L EL; Baldwin, Clinton T CT; Melista, Efi E; Gordeuk, Victor R VR; Nouraie, Mehdi M; Kato, Gregory R GR; Kato, Gregory J GJ; Minniti, Caterina C; Taylor, James J; Campbell, Andrew A; Luchtman-Jones, Lori L; Rana, Sohail S; Castro, Oswaldo O; Zhang, Yingze Y; Thein, Swee Lay SL; Sebastiani, Paola P; Gladwin, Mark T MT; , ; Steinberg, Martin H MH
Publication Date: 2013-04

Variant appearance in text: rs7948471
PubMed Link: 23406172
Variant Present in the following documents:
  • Main text
View BVdb publication page