CHST6 c.578T>C ;(p.L193P)

Variant ID: 16-75513149-A-G

NM_021615.4(CHST6):c.578T>C;(p.L193P)

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: L193P
PubMed Link: 33987320
Variant Present in the following documents:
  • atm-09-08-622.pdf
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: 578T>C
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6.

Molecular Vision
Sultana, Afia A; Klintworth, Gordon K GK; Thonar, Eugene J-M A EJ; Vemuganti, Geeta K GK; Kannabiran, Chitra C
Publication Date: 2009

Variant appearance in text: CHST6: Leu193Pro
PubMed Link: 19204788
Variant Present in the following documents:
  • Main text
  • mv-v15-319.pdf
View BVdb publication page