MAD1L1 c.1999-31001G>C

Variant ID: 7-1886865-C-G

NM_001013836.1(MAD1L1):c.1999-31001G>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs6954521
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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: rs6954521
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: rs6954521
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page



Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis.

American Journal Of Respiratory And Critical Care Medicine
Allen, Richard J RJ; Guillen-Guio, Beatriz B; Oldham, Justin M JM; Ma, Shwu-Fan SF; Dressen, Amy A; Paynton, Megan L ML; Kraven, Luke M LM; Obeidat, Ma'en M; Li, Xuan X; Ng, Michael M; Braybrooke, Rebecca R; Molina-Molina, Maria M; Hobbs, Brian D BD; Putman, Rachel K RK; Sakornsakolpat, Phuwanat P; Booth, Helen L HL; Fahy, William A WA; Hart, Simon P SP; Hill, Mike R MR; Hirani, Nik N; Hubbard, Richard B RB; McAnulty, Robin J RJ; Millar, Ann B AB; Navaratnam, Vidyia V; Oballa, Eunice E; Parfrey, Helen H; Saini, Gauri G; Whyte, Moira K B MKB; Zhang, Yingze Y; Kaminski, Naftali N; Adegunsoye, Ayodeji A; Strek, Mary E ME; Neighbors, Margaret M; Sheng, Xuting R XR; Gudmundsson, Gunnar G; Gudnason, Vilmundur V; Hatabu, Hiroto H; Lederer, David J DJ; Manichaikul, Ani A; Newell, John D JD; O'Connor, George T GT; Ortega, Victor E VE; Xu, Hanfei H; Fingerlin, Tasha E TE; Bossé, Yohan Y; Hao, Ke K; Joubert, Philippe P; Nickle, David C DC; Sin, Don D DD; Timens, Wim W; Furniss, Dominic D; Morris, Andrew P AP; Zondervan, Krina T KT; Hall, Ian P IP; Sayers, Ian I; Tobin, Martin D MD; Maher, Toby M TM; Cho, Michael H MH; Hunninghake, Gary M GM; Schwartz, David A DA; Yaspan, Brian L BL; Molyneaux, Philip L PL; Flores, Carlos C; Noth, Imre I; Jenkins, R Gisli RG; Wain, Louise V LV
Publication Date: 2020-03-01

Variant appearance in text: rs6954521
PubMed Link: 31710517
Variant Present in the following documents:
  • rccm.201905-1017OC_allen_data_supplement.pdf
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: rs6954521
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.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: rs6954521
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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: rs6954521
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci.

Plos One
Mirza, Aashiq H AH; Kaur, Simranjeet S; Brorsson, Caroline A CA; Pociot, Flemming F
Publication Date: 2014

Variant appearance in text: rs6954521
PubMed Link: 25144376
Variant Present in the following documents:
  • pone.0105723.s013.xlsx, sheet 2
View BVdb publication page