CENPV c.*115T>G

Variant ID: 17-16246016-A-C

NM_181716.2(CENPV):c.*115T>G

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs7477
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs7477
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs7477
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: rs7477
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 2
  • CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs7477
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs7477
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs7477
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs7477
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.

Annals Of Neurology
Diekstra, Frank P FP; Van Deerlin, Vivianna M VM; van Swieten, John C JC; Al-Chalabi, Ammar A; Ludolph, Albert C AC; Weishaupt, Jochen H JH; Hardiman, Orla O; Landers, John E JE; Brown, Robert H RH; van Es, Michael A MA; Pasterkamp, R Jeroen RJ; Koppers, Max M; Andersen, Peter M PM; Estrada, Karol K; Rivadeneira, Fernando F; Hofman, Albert A; Uitterlinden, André G AG; van Damme, Philip P; Melki, Judith J; Meininger, Vincent V; Shatunov, Aleksey A; Shaw, Christopher E CE; Leigh, P Nigel PN; Shaw, Pamela J PJ; Morrison, Karen E KE; Fogh, Isabella I; Chiò, Adriano A; Traynor, Bryan J BJ; Czell, David D; Weber, Markus M; Heutink, Peter P; de Bakker, Paul I W PI; Silani, Vincenzo V; Robberecht, Wim W; van den Berg, Leonard H LH; Veldink, Jan H JH
Publication Date: 2014-07

Variant appearance in text: rs7477
PubMed Link: 24931836
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Neurobiology Of Aging
Ahmeti, Kreshnik B KB; Ajroud-Driss, Senda S; Al-Chalabi, Ammar A; Andersen, Peter M PM; Armstrong, Jennifer J; Birve, Anne A; Blauw, Hylke M HM; Brown, Robert H RH; Bruijn, Lucie L; Chen, Wenjie W; Chio, Adriano A; Comeau, Mary C MC; Cronin, Simon S; Diekstra, Frank P FP; Soraya Gkazi, Athina A; Glass, Jonathan D JD; Grab, Josh D JD; Groen, Ewout J EJ; Haines, Jonathan L JL; Hardiman, Orla O; Heller, Scott S; Huang, Jie J; Hung, Wu-Yen WY; , ; Jaworski, James M JM; Jones, Ashley A; Khan, Humaira H; Landers, John E JE; Langefeld, Carl D CD; Leigh, P Nigel PN; Marion, Miranda C MC; McLaughlin, Russell L RL; Meininger, Vincent V; Melki, Judith J; Miller, Jack W JW; Mora, Gabriele G; Pericak-Vance, Margaret A MA; Rampersaud, Evadnie E; Robberecht, Wim W; Russell, Laurie P LP; Salachas, Francois F; Saris, Christiaan G CG; Shatunov, Aleksey A; Shaw, Christopher E CE; Siddique, Nailah N; Siddique, Teepu T; Smith, Bradley N BN; Sufit, Robert R; Topp, Simon S; Traynor, Bryan J BJ; Vance, Caroline C; van Damme, Philip P; van den Berg, Leonard H LH; van Es, Michael A MA; van Vught, Paul W PW; Veldink, Jan H JH; Yang, Yi Y; Zheng, J G JG; ,
Publication Date: 2013-01

Variant appearance in text: rs7477
PubMed Link: 22959728
Variant Present in the following documents:
  • Main text
View BVdb publication page