CHST6 c.632G>A ;(p.R211Q)

Variant ID: 16-75513095-C-T

NM_021615.4(CHST6):c.632G>A;(p.R211Q)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: 632G>A; Arg211Gln
PubMed Link: 33987320
Variant Present in the following documents:
  • Main text
  • atm-09-08-622.pdf
View BVdb publication page



Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.

Frontiers In Genetics
Zhang, Jing J; Wu, Dan D; Li, Yue Y; Fan, Yidan Y; Chen, Huiyu H; Hong, Jiaxu J; Xu, Jianjiang J
Publication Date: 2019

Variant appearance in text: CHST6: R211Q
PubMed Link: 31555324
Variant Present in the following documents:
  • Main text
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: R211Q
PubMed Link: 30716718
Variant Present in the following documents:
  • Main text
  • aging-11-101807.pdf
  • aging-11-101807-s002.xlsx, sheet 1
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: CHST6: R211Q
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
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: R211Q
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: R211Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy.

Cornea
Patel, Dhara A DA; Harocopos, George J GJ; Chang, Shu-Hong SH; Vora, Smita C SC; Lubniewski, Anthony J AJ; Huang, Andrew Jw AJ
Publication Date: 2011-06

Variant appearance in text: CHST6: 632G>A; Arg211Gln
PubMed Link: 21242781
Variant Present in the following documents:
  • Main text
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: 632G>A
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
View BVdb publication page