CDK10 c.87+1050T>G

Variant ID: 16-89754255-T-G

NM_052988.4(CDK10):c.87+1050T>G

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: CDK10: 87+1050T>G; rs258324
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
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: rs258324
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs258324
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Your height affects your health: genetic determinants and health-related outcomes in Taiwan.

Bmc Medicine
Chiou, Jian-Shiun JS; Cheng, Chi-Fung CF; Liang, Wen-Miin WM; Chou, Chen-Hsing CH; Wang, Chung-Hsing CH; Lin, Wei-De WD; Chiu, Mu-Lin ML; Cheng, Wei-Chung WC; Lin, Cheng-Wen CW; Lin, Ting-Hsu TH; Liao, Chiu-Chu CC; Huang, Shao-Mei SM; Tsai, Chang-Hai CH; Lin, Ying-Ju YJ; Tsai, Fuu-Jen FJ
Publication Date: 2022-07-13

Variant appearance in text: rs258324
PubMed Link: 35831902
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: CDK10: 87+1050T>G; rs258324
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



Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan.

Scientific Reports
Lin, Ying-Ju YJ; Liao, Wen-Ling WL; Wang, Chung-Hsing CH; Tsai, Li-Ping LP; Tang, Chih-Hsin CH; Chen, Chien-Hsiun CH; Wu, Jer-Yuarn JY; Liang, Wen-Miin WM; Hsieh, Ai-Ru AR; Cheng, Chi-Fung CF; Chen, Jin-Hua JH; Chien, Wen-Kuei WK; Lin, Ting-Hsu TH; Wu, Chia-Ming CM; Liao, Chiu-Chu CC; Huang, Shao-Mei SM; Tsai, Fuu-Jen FJ
Publication Date: 2017-07-25

Variant appearance in text: rs258324
PubMed Link: 28744006
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_6766.pdf
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: rs258324
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

Human Molecular Genetics
He, Meian M; Xu, Min M; Zhang, Ben B; Liang, Jun J; Chen, Peng P; Lee, Jong-Young JY; Johnson, Todd A TA; Li, Huaixing H; Yang, Xiaobo X; Dai, Juncheng J; Liang, Liming L; Gui, Lixuan L; Qi, Qibin Q; Huang, Jinyan J; Li, Yanping Y; Adair, Linda S LS; Aung, Tin T; Cai, Qiuyin Q; Cheng, Ching-Yu CY; Cho, Myeong-Chan MC; Cho, Yoon Shin YS; Chu, Minjie M; Cui, Bin B; Gao, Yu-Tang YT; Go, Min Jin MJ; Gu, Dongfeng D; Gu, Weiqiong W; Guo, Huan H; Hao, Yongchen Y; Hong, Jie J; Hu, Zhibin Z; Hu, Yanling Y; Huang, Jianfeng J; Hwang, Joo-Yeon JY; Ikram, Mohammad Kamran MK; Jin, Guangfu G; Kang, Dae-Hee DH; Khor, Chiea Chuen CC; Kim, Bong-Jo BJ; Kim, Hung Tae HT; Kubo, Michiaki M; Lee, Jeannette J; Lee, Juyoung J; Lee, Nanette R NR; Li, Ruoying R; Li, Jun J; Liu, JianJun J; Longe, Jirong J; Lu, Wei W; Lu, Xiangfeng X; Miao, Xiaoping X; Okada, Yukinori Y; Ong, Rick Twee-Hee RT; Qiu, Gaokun G; Seielstad, Mark M; Sim, Xueling X; Song, Huaidong H; Takeuchi, Fumihiko F; Tanaka, Toshihiro T; Taylor, Phil R PR; Wang, Laiyuan L; Wang, Weiqing W; Wang, Yiqin Y; Wu, Chen C; Wu, Ying Y; Xiang, Yong-Bing YB; Yamamoto, Ken K; Yang, Handong H; Liao, Ming M; Yokota, Mitsuhiro M; Young, Terri T; Zhang, Xiaomin X; Kato, Norihiro N; Wang, Qing K QK; Zheng, Wei W; Hu, Frank B FB; Lin, Dongxin D; Shen, Hongbing H; Teo, Yik Ying YY; Mo, Zengnan Z; Wong, Tien Yin TY; Lin, Xu X; Mohlke, Karen L KL; Ning, Guang G; Tsunoda, Tatsuhiko T; Han, Bok-Ghee BG; Shu, Xiao-Ou XO; Tai, E Shyong ES; Wu, Tangchun T; Qi, Lu L
Publication Date: 2015-03-15

Variant appearance in text: rs258324
PubMed Link: 25429064
Variant Present in the following documents:
  • Main text
View BVdb publication page