TBCD c.1664G>A ;(p.G555D)

Variant ID: 17-80858541-G-A

NM_005993.4(TBCD):c.1664G>A;(p.G555D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.

Iranian Journal Of Basic Medical Sciences
Mohammadi, Aliasgar A; Ahmadi Shadmehri, Azam A; Taghavi, Mahnaz M; Yaghoobi, Gholamhossein G; Pourreza, Mohammad Reza MR; Tabatabaiefar, Mohammad Amin MA
Publication Date: 2020-08

Variant appearance in text: TBCD: 1664G>A
PubMed Link: 32952948
Variant Present in the following documents:
  • Main text
View BVdb publication page



Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family.

Eye (London, England)
Chao-Shern, C C; Me, R R; DeDionisio, L A LA; Ke, B L BL; Nesbit, M A MA; Marshall, J J; Moore, C B T CBT
Publication Date: 2018-01

Variant appearance in text: TBCD: 1664G>A
PubMed Link: 29192679
Variant Present in the following documents:
  • Main text
View BVdb publication page



TGFBI gene mutations in a Korean population with corneal dystrophy.

Molecular Vision
Cho, Kyong Jin KJ; Mok, Jee Won JW; Na, Kyung Sun KS; Rho, Chang Rae CR; Byun, Yong Soo YS; Hwang, Ho Sik HS; Hwang, Kyu Yeon KY; Joo, Choun-Ki CK
Publication Date: 2012

Variant appearance in text: TBCD: 1664G>A
PubMed Link: 22876129
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: TBCD: 1664G>A
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
View BVdb publication page