CD80 c.701-183C>A

Variant ID: 3-119248967-G-T

NM_005191.3(CD80):c.701-183C>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: rs2629396
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: CD80: 701-183C>A; rs2629396
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.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: rs2629396
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Role of podocyte B7-1 in diabetic nephropathy.

Journal Of The American Society Of Nephrology : Jasn
Fiorina, Paolo P; Vergani, Andrea A; Bassi, Roberto R; Niewczas, Monika A MA; Altintas, Mehmet M MM; Pezzolesi, Marcus G MG; D'Addio, Francesca F; Chin, Melissa M; Tezza, Sara S; Ben Nasr, Moufida M; Mattinzoli, Deborah D; Ikehata, Masami M; Corradi, Domenico D; Schumacher, Valerie V; Buvall, Lisa L; Yu, Chih-Chuan CC; Chang, Jer-Ming JM; La Rosa, Stefano S; Finzi, Giovanna G; Solini, Anna A; Vincenti, Flavio F; Rastaldi, Maria Pia MP; Reiser, Jochen J; Krolewski, Andrzej S AS; Mundel, Peter H PH; Sayegh, Mohamed H MH
Publication Date: 2014-07

Variant appearance in text: rs2629396
PubMed Link: 24676639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Different genetic associations of the IgE production among fetus, infancy and childhood.

Plos One
Chang, Jen-Chieh JC; Kuo, Ho-Chang HC; Hsu, Te-Yao TY; Ou, Chia-Yu CY; Liu, Chieh-An CA; Chuang, Hau H; Liang, Hsiu-Mei HM; Huang, Hurng-Wern HW; Yang, Kuender D KD
Publication Date: 2013

Variant appearance in text: rs2629396
PubMed Link: 23936416
Variant Present in the following documents:
  • Main text
  • pone.0070362.pdf
View BVdb publication page