CHST6 c.803A>G ;(p.Y268C)

Variant ID: 16-75512924-T-C

NM_021615.4(CHST6):c.803A>G;(p.Y268C)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: CHST6: 803A>G; Tyr268Cys
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

International Journal Of Molecular Sciences
Zhu, Di D; Wang, Junwen J; Wang, Yingwei Y; Jiang, Yi Y; Li, Shiqiang S; Xiao, Xueshan X; Wang, Panfeng P; Zhang, Qingjiong Q
Publication Date: 2023-03-06

Variant appearance in text: CHST6: 803A>G; Tyr268Cys
PubMed Link: 36902444
Variant Present in the following documents:
  • ijms-24-05012.pdf
View BVdb publication page



A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies.

Frontiers In Genetics
Lu, Guanting G; Ma, Liya L; Xu, Pei P; Xian, Binqiang B; Wu, Lianying L; Ding, Jianying J; He, Xiaoyan X; Xia, Huiyun H; Ding, Wuwu W; Yang, Zhirong Z; Peng, Qiongling Q
Publication Date: 2022

Variant appearance in text: CHST6: 803A>G; Tyr268Cys
PubMed Link: 35432459
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Publication Date: 2022-02

Variant appearance in text: CHST6: Tyr268Cys
PubMed Link: 34697415
Variant Present in the following documents:
  • 41431_2021_964_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Publication Date: 2021-10-25

Variant appearance in text: CHST6: Tyr268Cys
PubMed Link: 34697415
Variant Present in the following documents:
  • 41431_2021_964_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.

Annals Of Translational Medicine
Huang, Yanxia Y; Yuan, Lamei L; Cao, Yanna Y; Tang, Renhong R; Xu, Hongbo H; Tang, Ziqian Z; Deng, Hao H
Publication Date: 2021-04

Variant appearance in text: CHST6: Y268C
PubMed Link: 33987320
Variant Present in the following documents:
  • atm-09-08-622.pdf
View BVdb publication page



Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.

Frontiers In Cell And Developmental Biology
Li, Wei W; Qu, Ning N; Li, Jian-Kang JK; Li, Yu-Xin YX; Han, Dong-Ming DM; Chen, Yi-Xi YX; Tian, Le L; Shao, Kang K; Yang, Wen W; Wang, Zhuo-Shi ZS; Chen, Xuan X; Jin, Xiao-Ying XY; Wang, Zi-Wei ZW; Liang, Chen C; Qian, Wei-Ping WP; Wang, Lu-Sheng LS; He, Wei W
Publication Date: 2021

Variant appearance in text: CHST6: 803A>G; Y268C
PubMed Link: 33816482
Variant Present in the following documents:
  • Main text
  • fcell-09-632946.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: CHST6: 803A>G; Tyr268Cys; rs72547539
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Macular corneal dystrophy with isolated peripheral Descemet membrane deposits.

American Journal Of Ophthalmology Case Reports
Zhang, Wenlin W; Kassels, Austin Connor AC; Barrington, Alice A; Khan, Shaukat S; Tomatsu, Shunji S; Alkadi, Turad T; Aldave, Anthony A
Publication Date: 2019-12

Variant appearance in text: CHST6: Tyr268Cys; rs72547539
PubMed Link: 31799478
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.

Aging
Zhang, Jing J; Wu, Dan D; Li, Yue Y; Fan, Yidan Y; Dai, Yiqin Y; Xu, Jianjiang J
Publication Date: 2019-02-04

Variant appearance in text: CHST6: 803A>G; Y268C
PubMed Link: 30716718
Variant Present in the following documents:
  • aging-11-101807-s002.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: MCDC1: Y268C
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CHST6: Y268C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



The IC3D classification of the corneal dystrophies.

Cornea
Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK
Publication Date: 2008-12

Variant appearance in text: CHST6: 803A>G
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
View BVdb publication page