KAT8 c.1157+66C>T

Variant ID: 16-31141993-C-T

NM_032188.2(KAT8):c.1157+66C>T

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.

Diabetologia
Tremblay, Johanne J; Haloui, Mounsif M; Attaoua, Redha R; Tahir, Ramzan R; Hishmih, Camil C; Harvey, François F; Marois-Blanchet, François-Christophe FC; Long, Carole C; Simon, Paul P; Santucci, Lara L; Hizel, Candan C; Chalmers, John J; Marre, Michel M; Harrap, Stephen S; Cífková, Renata R; Krajčoviechová, Alena A; Matthews, David R DR; Williams, Bryan B; Poulter, Neil N; Zoungas, Sophia S; Colagiuri, Stephen S; Mancia, Giuseppe G; Grobbee, Diederick E DE; Rodgers, Anthony A; Liu, Liusheng L; Agbessi, Mawussé M; Bruat, Vanessa V; Favé, Marie-Julie MJ; Harwood, Michelle P MP; Awadalla, Philip P; Woodward, Mark M; Hussin, Julie G JG; Hamet, Pavel P
Publication Date: 2021-09

Variant appearance in text: rs1549293
PubMed Link: 34226943
Variant Present in the following documents:
  • 125_2021_5491_MOESM1_ESM.pdf
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: KAT8: 1157+66C>T; rs1549293
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.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: rs1549293
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Mapping Genome Variants Sheds Light on Genetic and Phenotypic Differentiation in Chinese.

Genomics, Proteomics & Bioinformatics
Guo, Li L; Ye, Kai K
Publication Date: 2019-06

Variant appearance in text: rs1549293
PubMed Link: 31513928
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome.

Genomics, Proteomics & Bioinformatics
Du, Zhenglin Z; Ma, Liang L; Qu, Hongzhu H; Chen, Wei W; Zhang, Bing B; Lu, Xi X; Zhai, Weibo W; Sheng, Xin X; Sun, Yongqiao Y; Li, Wenjie W; Lei, Meng M; Qi, Qiuhui Q; Yuan, Na N; Shi, Shuo S; Zeng, Jingyao J; Wang, Jinyue J; Yang, Yadong Y; Liu, Qi Q; Hong, Yaqiang Y; Dong, Lili L; Zhang, Zhewen Z; Zou, Dong D; Wang, Yanqing Y; Song, Shuhui S; Liu, Fan F; Fang, Xiangdong X; Chen, Hua H; Liu, Xin X; Xiao, Jingfa J; Zeng, Changqing C
Publication Date: 2019-06

Variant appearance in text: rs1549293
PubMed Link: 31494266
Variant Present in the following documents:
  • Main text
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: rs1549293
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: rs1549293
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: rs1549293
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



Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.

Lancet (London, England)
Perera, Minoli A MA; Cavallari, Larisa H LH; Limdi, Nita A NA; Gamazon, Eric R ER; Konkashbaev, Anuar A; Daneshjou, Roxana R; Pluzhnikov, Anna A; Crawford, Dana C DC; Wang, Jelai J; Liu, Nianjun N; Tatonetti, Nicholas N; Bourgeois, Stephane S; Takahashi, Harumi H; Bradford, Yukiko Y; Burkley, Benjamin M BM; Desnick, Robert J RJ; Halperin, Jonathan L JL; Khalifa, Sherief I SI; Langaee, Taimour Y TY; Lubitz, Steven A SA; Nutescu, Edith A EA; Oetjens, Matthew M; Shahin, Mohamed H MH; Patel, Shitalben R SR; Sagreiya, Hersh H; Tector, Matthew M; Weck, Karen E KE; Rieder, Mark J MJ; Scott, Stuart A SA; Wu, Alan H B AH; Burmester, James K JK; Wadelius, Mia M; Deloukas, Panos P; Wagner, Michael J MJ; Mushiroda, Taisei T; Kubo, Michiaki M; Roden, Dan M DM; Cox, Nancy J NJ; Altman, Russ B RB; Klein, Teri E TE; Nakamura, Yusuke Y; Johnson, Julie A JA
Publication Date: 2013-08-31

Variant appearance in text: rs1549293
PubMed Link: 23755828
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page