CHST6 c.137T>C ;(p.L46P)

Variant ID: 16-75513590-A-G

NM_021615.4(CHST6):c.137T>C;(p.L46P)

This variant was identified in 3 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: L46P
PubMed Link: 33987320
Variant Present in the following documents:
  • atm-09-08-622.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: 137T>C; L46P
PubMed Link: 30716718
Variant Present in the following documents:
  • aging-11-101807-s002.xlsx, sheet 1
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: 137T>C
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
View BVdb publication page