ABCC4 c.1263+70T>C

Variant ID: 13-95847020-A-G

NM_005845.3(ABCC4):c.1263+70T>C

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Pharmacogenetics of tenofovir renal toxicity in HIV-positive Southern Africans.

Pharmacogenetics And Genomics
Mateza, Somila S; Bradford, Yuki Y; Maartens, Gary G; Sokhela, Simiso S; Chandiwana, Nomathemba C NC; Venter, Willem D F WDF; Post, Frank A FA; Ritchie, Marylyn D MD; Haas, David W DW; Sinxadi, Phumla P
Publication Date: 2023-04-24

Variant appearance in text: rs2274403
PubMed Link: 37099271
Variant Present in the following documents:
  • Main text
  • pgen-33-91.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs2274403
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
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: ABCC4: 1263+70T>C; rs2274403
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: ABCC4: 1263+70T>C; rs2274403
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 2
  • CNR2-4-e1335-s003.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: ABCC4: 1263+70T>C; rs2274403
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Uncovering the complex genetics of human character.

Molecular Psychiatry
Zwir, Igor I; Arnedo, Javier J; Del-Val, Coral C; Pulkki-Råback, Laura L; Konte, Bettina B; Yang, Sarah S SS; Romero-Zaliz, Rocio R; Hintsanen, Mirka M; Cloninger, Kevin M KM; Garcia, Danilo D; Svrakic, Dragan M DM; Rozsa, Sandor S; Martinez, Maribel M; Lyytikäinen, Leo-Pekka LP; Giegling, Ina I; Kähönen, Mika M; Hernandez-Cuervo, Helena H; Seppälä, Ilkka I; Raitoharju, Emma E; de Erausquin, Gabriel A GA; Raitakari, Olli O; Rujescu, Dan D; Postolache, Teodor T TT; Sung, Joohon J; Keltikangas-Järvinen, Liisa L; Lehtimäki, Terho T; Cloninger, C Robert CR
Publication Date: 2020-10

Variant appearance in text: ABCC4: 1263+70T>C; rs2274403
PubMed Link: 30283034
Variant Present in the following documents:
  • 41380_2018_263_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Uncovering the complex genetics of human temperament.

Molecular Psychiatry
Zwir, Igor I; Arnedo, Javier J; Del-Val, Coral C; Pulkki-Råback, Laura L; Konte, Bettina B; Yang, Sarah S SS; Romero-Zaliz, Rocio R; Hintsanen, Mirka M; Cloninger, Kevin M KM; Garcia, Danilo D; Svrakic, Dragan M DM; Rozsa, Sandor S; Martinez, Maribel M; Lyytikäinen, Leo-Pekka LP; Giegling, Ina I; Kähönen, Mika M; Hernandez-Cuervo, Helena H; Seppälä, Ilkka I; Raitoharju, Emma E; de Erausquin, Gabriel A GA; Raitakari, Olli O; Rujescu, Dan D; Postolache, Teodor T TT; Sung, Joohon J; Keltikangas-Järvinen, Liisa L; Lehtimäki, Terho T; Cloninger, C Robert CR
Publication Date: 2020-10

Variant appearance in text: ABCC4: 1263+70T>C; rs2274403
PubMed Link: 30279457
Variant Present in the following documents:
  • 41380_2018_264_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2274403
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.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: rs2274403
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Influence of Genetic Polymorphisms in Prostaglandin E2 Pathway (COX-2/HPGD/SLCO2A1/ABCC4) on the Risk for Colorectal Adenoma Development and Recurrence after Polypectomy.

Clinical And Translational Gastroenterology
Pereira, Carina C; Queirós, Sara S; Galaghar, Ana A; Sousa, Hugo H; Marcos-Pinto, Ricardo R; Pimentel-Nunes, Pedro P; Brandão, Catarina C; Medeiros, Rui R; Dinis-Ribeiro, Mário M
Publication Date: 2016-09-15

Variant appearance in text: rs2274403
PubMed Link: 27628421
Variant Present in the following documents:
  • Main text
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: rs2274403
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



Genetic variability in key genes in prostaglandin E2 pathway (COX-2, HPGD, ABCC4 and SLCO2A1) and their involvement in colorectal cancer development.

Plos One
Pereira, Carina C; Queirós, Sara S; Galaghar, Ana A; Sousa, Hugo H; Pimentel-Nunes, Pedro P; Brandão, Catarina C; Moreira-Dias, Luís L; Medeiros, Rui R; Dinis-Ribeiro, Mário M
Publication Date: 2014

Variant appearance in text: rs2274403
PubMed Link: 24694755
Variant Present in the following documents:
  • Main text
  • pone.0092000.pdf
View BVdb publication page



Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.

American Journal Of Human Genetics
Melquist, Stacey S; Craig, David W DW; Huentelman, Matthew J MJ; Crook, Richard R; Pearson, John V JV; Baker, Matt M; Zismann, Victoria L VL; Gass, Jennifer J; Adamson, Jennifer J; Szelinger, Szabolcs S; Corneveaux, Jason J; Cannon, Ashley A; Coon, Keith D KD; Lincoln, Sarah S; Adler, Charles C; Tuite, Paul P; Calne, Donald B DB; Bigio, Eileen H EH; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Golbe, Lawrence I LI; Caselli, Richard J RJ; Graff-Radford, Neill N; Litvan, Irene I; Farrer, Matthew J MJ; Dickson, Dennis W DW; Hutton, Mike M; Stephan, Dietrich A DA
Publication Date: 2007-04

Variant appearance in text: rs2274403
PubMed Link: 17357082
Variant Present in the following documents:
  • Main text
View BVdb publication page