UGT1A1 c.997-82T>C

Variant ID: 2-234676413-T-C

NM_000463.2(UGT1A1):c.997-82T>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: rs2302538
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: rs2302538
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page



UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population.

Biomed Research International
Wisnumurti, Dewi A DA; Sribudiani, Yunia Y; Porsch, Robert M RM; Maskoen, Ani M AM; Abdulhamied, Lola I LI; Rahayuningsih, Sri E SE; Asni, Eni K EK; Sleutels, Frank F; Kockx, Christel E M CEM; van Ijcken, Wilfred F J WFJ; Sukadi, Abdurachman A; Achmad, Tri H TH
Publication Date: 2018

Variant appearance in text: rs2302538
PubMed Link: 29607327
Variant Present in the following documents:
  • Main text
  • BMRI2018-9425843.pdf
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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
Publication Date: 2017-03

Variant appearance in text: rs2302538
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



A novel UGT1 marker associated with better tolerance against irinotecan-induced severe neutropenia in metastatic colorectal cancer patients.

The Pharmacogenomics Journal
Chen, S S; Laverdiere, I I; Tourancheau, A A; Jonker, D D; Couture, F F; Cecchin, E E; Villeneuve, L L; Harvey, M M; Court, M H MH; Innocenti, F F; Toffoli, G G; Lévesque, E E; Guillemette, C C
Publication Date: 2015-12

Variant appearance in text: rs2302538
PubMed Link: 25778466
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive variant screening of the UGT gene family.

Yonsei Medical Journal
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Byung Lae BL; Kim, Lyoung Hyo LH; Namgoong, Suhg S; Kim, Ji On JO; Kim, Hae Deun HD; Kim, Young Hoon YH; Chung, Myeon Woo MW; Han, Soon Young SY; Shin, Hyoung Doo HD
Publication Date: 2014-01

Variant appearance in text: rs2302538
PubMed Link: 24339312
Variant Present in the following documents:
  • ymj-55-232.pdf
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Genetic variations and haplotype diversity of the UGT1 gene cluster in the Chinese population.

Plos One
Yang, Jing J; Cai, Lei L; Huang, Haiyan H; Liu, Bingya B; Wu, Qiang Q
Publication Date: 2012

Variant appearance in text: rs2302538
PubMed Link: 22514612
Variant Present in the following documents:
View BVdb publication page



UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach.

Bmc Medical Genetics
Hanchard, Neil A NA; Skierka, Jennifer J; Weaver, Amy A; Karon, Brad S BS; Matern, Dietrich D; Cook, Walter W; O'Kane, Dennis J DJ
Publication Date: 2011-04-22

Variant appearance in text: rs2302538
PubMed Link: 21513526
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-57.pdf
View BVdb publication page