OSGEP c.294A>T ;(p.Q98H)

Variant ID: 14-20920250-T-A

NM_017807.3(OSGEP):c.294A>T;(p.Q98H)

This variant was identified in 9 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: rs2275007
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: rs2275007
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Influence of Second-Hand Smoke and Prenatal Tobacco Smoke Exposure on Biomarkers, Genetics and Physiological Processes in Children-An Overview in Research Insights of the Last Few Years.

International Journal Of Environmental Research And Public Health
Braun, Markus M; Klingelhöfer, Doris D; Oremek, Gerhard M GM; Quarcoo, David D; Groneberg, David A DA
Publication Date: 2020-05-05

Variant appearance in text: rs2275007
PubMed Link: 32380770
Variant Present in the following documents:
  • Main text
  • ijerph-17-03212.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs2275007
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs2275007
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2275007
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Association between the APEX1 Asp148Glu polymorphism and prostate cancer, especially among Asians: a new evidence-based analysis.

Oncotarget
Chen, Yang Y; Li, Jie J; Mo, Zengnan Z
Publication Date: 2016-08-09

Variant appearance in text: rs2275007
PubMed Link: 27248666
Variant Present in the following documents:
  • Main text
  • oncotarget-07-52530.pdf
View BVdb publication page



Genetic variation affects congenital heart defect susceptibility in offspring exposed to maternal tobacco use.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Tang, Xinyu X; Hobbs, Charlotte A CA; Cleves, Mario A MA; Erickson, Stephen W SW; MacLeod, Stewart L SL; Malik, Sadia S; ,
Publication Date: 2015-10

Variant appearance in text: rs2275007
PubMed Link: 26033827
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study.

Cancer Causes & Control : Ccc
Agalliu, Ilir I; Kwon, Erika M EM; Salinas, Claudia A CA; Koopmeiners, Joseph S JS; Ostrander, Elaine A EA; Stanford, Janet L JL
Publication Date: 2010-02

Variant appearance in text: rs2275007
PubMed Link: 19902366
Variant Present in the following documents:
  • Main text
View BVdb publication page