LMBRD1 c.247-65T>C

Variant ID: 6-70490511-A-G

NM_018368.3(LMBRD1):c.247-65T>C

This variant was identified in 6 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: rs9346353
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: LMBRD1: 247-65T>C; rs9346353
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs9346353
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.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: LMBRD1: 247-65T>C; rs9346353
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • 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: rs9346353
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.

Molecular Psychiatry
Gottlieb, D J DJ; Hek, K K; Chen, T-H TH; Watson, N F NF; Eiriksdottir, G G; Byrne, E M EM; Cornelis, M M; Warby, S C SC; Bandinelli, S S; Cherkas, L L; Evans, D S DS; Grabe, H J HJ; Lahti, J J; Li, M M; Lehtimäki, T T; Lumley, T T; Marciante, K D KD; Pérusse, L L; Psaty, B M BM; Robbins, J J; Tranah, G J GJ; Vink, J M JM; Wilk, J B JB; Stafford, J M JM; Bellis, C C; Biffar, R R; Bouchard, C C; Cade, B B; Curhan, G C GC; Eriksson, J G JG; Ewert, R R; Ferrucci, L L; Fülöp, T T; Gehrman, P R PR; Goodloe, R R; Harris, T B TB; Heath, A C AC; Hernandez, D D; Hofman, A A; Hottenga, J-J JJ; Hunter, D J DJ; Jensen, M K MK; Johnson, A D AD; Kähönen, M M; Kao, L L; Kraft, P P; Larkin, E K EK; Lauderdale, D S DS; Luik, A I AI; Medici, M M; Montgomery, G W GW; Palotie, A A; Patel, S R SR; Pistis, G G; Porcu, E E; Quaye, L L; Raitakari, O O; Redline, S S; Rimm, E B EB; Rotter, J I JI; Smith, A V AV; Spector, T D TD; Teumer, A A; Uitterlinden, A G AG; Vohl, M-C MC; Widen, E E; Willemsen, G G; Young, T T; Zhang, X X; Liu, Y Y; Blangero, J J; Boomsma, D I DI; Gudnason, V V; Hu, F F; Mangino, M M; Martin, N G NG; O'Connor, G T GT; Stone, K L KL; Tanaka, T T; Viikari, J J; Gharib, S A SA; Punjabi, N M NM; Räikkönen, K K; Völzke, H H; Mignot, E E; Tiemeier, H H
Publication Date: 2015-10

Variant appearance in text: rs9346353
PubMed Link: 25469926
Variant Present in the following documents:
  • Main text
View BVdb publication page