TGFBI c.1618_1620del ;(p.F540del)

Variant ID: 5-135392424-CTTT-C

NM_000358.2(TGFBI):c.1618_1620del;(p.F540del)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region.

Turkish Journal Of Ophthalmology
Malkondu, Fatma F; Arıkoğlu, Hilal H; Erkoç Kaya, Dudu D; Bozkurt, Banu B; Özkan, Fehmi F
Publication Date: 2020-04-29

Variant appearance in text: TGFBI: Phe540del
PubMed Link: 32366062
Variant Present in the following documents:
  • Main text
  • TJO-50-64.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: TGFBI: 1618_1620delTTT
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
View BVdb publication page