XRCC5 c.2109+255C>T

Variant ID: 2-217059964-C-T

NM_021141.3(XRCC5):c.2109+255C>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: rs4674066
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: XRCC5: 2109+255C>T; rs4674066
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Multistudy fine mapping of chromosome 2q identifies XRCC5 as a chronic obstructive pulmonary disease susceptibility gene.

American Journal Of Respiratory And Critical Care Medicine
Hersh, Craig P CP; Pillai, Sreekumar G SG; Zhu, Guohua G; Lomas, David A DA; Bakke, Per P; Gulsvik, Amund A; DeMeo, Dawn L DL; Klanderman, Barbara J BJ; Lazarus, Ross R; Litonjua, Augusto A AA; Sparrow, David D; Reilly, John J JJ; Agusti, Alvar A; Calverley, Peter M A PM; Donner, Claudio F CF; Levy, Robert D RD; Make, Barry J BJ; Paré, Peter D PD; Rennard, Stephen I SI; Vestbo, Jørgen J; Wouters, Emiel F M EF; Scholand, Mary Beth MB; Coon, Hilary H; Hoidal, John J; Silverman, Edwin K EK
Publication Date: 2010-09-01

Variant appearance in text: rs4674066
PubMed Link: 20463177
Variant Present in the following documents:
  • Main text
View BVdb publication page