AP1G1 c.1730+6C>A

Variant ID: 16-71780485-G-T

NM_001128.5(AP1G1):c.1730+6C>A

This variant was identified in 11 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: rs2270832
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: rs2270832
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs2270832
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2270832
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs2270832
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, 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: rs2270832
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs2270832
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
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: rs2270832
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.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: rs2270832
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: rs2270832
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.

Nature Genetics
Al Olama, Ali Amin AA; Kote-Jarai, Zsofia Z; Berndt, Sonja I SI; Conti, David V DV; Schumacher, Fredrick F; Han, Ying Y; Benlloch, Sara S; Hazelett, Dennis J DJ; Wang, Zhaoming Z; Saunders, Ed E; Leongamornlert, Daniel D; Lindstrom, Sara S; Jugurnauth-Little, Sara S; Dadaev, Tokhir T; Tymrakiewicz, Malgorzata M; Stram, Daniel O DO; Rand, Kristin K; Wan, Peggy P; Stram, Alex A; Sheng, Xin X; Pooler, Loreall C LC; Park, Karen K; Xia, Lucy L; Tyrer, Jonathan J; Kolonel, Laurence N LN; Le Marchand, Loic L; Hoover, Robert N RN; Machiela, Mitchell J MJ; Yeager, Merideth M; Burdette, Laurie L; Chung, Charles C CC; Hutchinson, Amy A; Yu, Kai K; Goh, Chee C; Ahmed, Mahbubl M; Govindasami, Koveela K; Guy, Michelle M; Tammela, Teuvo L J TL; Auvinen, Anssi A; Wahlfors, Tiina T; Schleutker, Johanna J; Visakorpi, Tapio T; Leinonen, Katri A KA; Xu, Jianfeng J; Aly, Markus M; Donovan, Jenny J; Travis, Ruth C RC; Key, Tim J TJ; Siddiq, Afshan A; Canzian, Federico F; Khaw, Kay-Tee KT; Takahashi, Atsushi A; Kubo, Michiaki M; Pharoah, Paul P; Pashayan, Nora N; Weischer, Maren M; Nordestgaard, Borge G BG; Nielsen, Sune F SF; Klarskov, Peter P; Røder, Martin Andreas MA; Iversen, Peter P; Thibodeau, Stephen N SN; McDonnell, Shannon K SK; Schaid, Daniel J DJ; Stanford, Janet L JL; Kolb, Suzanne S; Holt, Sarah S; Knudsen, Beatrice B; Coll, Antonio Hurtado AH; Gapstur, Susan M SM; Diver, W Ryan WR; Stevens, Victoria L VL; Maier, Christiane C; Luedeke, Manuel M; Herkommer, Kathleen K; Rinckleb, Antje E AE; Strom, Sara S SS; Pettaway, Curtis C; Yeboah, Edward D ED; Tettey, Yao Y; Biritwum, Richard B RB; Adjei, Andrew A AA; Tay, Evelyn E; Truelove, Ann A; Niwa, Shelley S; Chokkalingam, Anand P AP; Cannon-Albright, Lisa L; Cybulski, Cezary C; Wokołorczyk, Dominika D; Kluźniak, Wojciech W; Park, Jong J; Sellers, Thomas T; Lin, Hui-Yi HY; Isaacs, William B WB; Partin, Alan W AW; Brenner, Hermann H; Dieffenbach, Aida Karina AK; Stegmaier, Christa C; Chen, Constance C; Giovannucci, Edward L EL; Ma, Jing J; Stampfer, Meir M; Penney, Kathryn L KL; Mucci, Lorelei L; John, Esther M EM; Ingles, Sue A SA; Kittles, Rick A RA; Murphy, Adam B AB; Pandha, Hardev H; Michael, Agnieszka A; Kierzek, Andrzej M AM; Blot, William W; Signorello, Lisa B LB; Zheng, Wei W; Albanes, Demetrius D; Virtamo, Jarmo J; Weinstein, Stephanie S; Nemesure, Barbara B; Carpten, John J; Leske, Cristina C; Wu, Suh-Yuh SY; Hennis, Anselm A; Kibel, Adam S AS; Rybicki, Benjamin A BA; Neslund-Dudas, Christine C; Hsing, Ann W AW; Chu, Lisa L; Goodman, Phyllis J PJ; Klein, Eric A EA; Zheng, S Lilly SL; Batra, Jyotsna J; Clements, Judith J; Spurdle, Amanda A; Teixeira, Manuel R MR; Paulo, Paula P; Maia, Sofia S; Slavov, Chavdar C; Kaneva, Radka R; Mitev, Vanio V; Witte, John S JS; Casey, Graham G; Gillanders, Elizabeth M EM; Seminara, Daniella D; Riboli, Elio E; Hamdy, Freddie C FC; Coetzee, Gerhard A GA; Li, Qiyuan Q; Freedman, Matthew L ML; Hunter, David J DJ; Muir, Kenneth K; Gronberg, Henrik H; Neal, David E DE; Southey, Melissa M; Giles, Graham G GG; Severi, Gianluca G; , ; , ; , ; , ; Cook, Michael B MB; Nakagawa, Hidewaki H; Wiklund, Fredrik F; Kraft, Peter P; Chanock, Stephen J SJ; Henderson, Brian E BE; Easton, Douglas F DF; Eeles, Rosalind A RA; Haiman, Christopher A CA
Publication Date: 2014-10

Variant appearance in text: rs2270832
PubMed Link: 25217961
Variant Present in the following documents:
  • NIHMS622700-supplement-2.xlsx, sheet 14
View BVdb publication page