TGFBI c.1640T>C ;(p.F547S)

Variant ID: 5-135392446-T-C

NM_000358.2(TGFBI):c.1640T>C;(p.F547S)

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: LCD1: 1640T>C
PubMed Link: 32952948
Variant Present in the following documents:
  • Main text
  • IJBMS-23-1020.pdf
View BVdb publication page



Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.

Scientific Reports
Christie, Kathleen A KA; Courtney, David G DG; DeDionisio, Larry A LA; Shern, Connie Chao CC; De Majumdar, Shyamasree S; Mairs, Laura C LC; Nesbit, M Andrew MA; Moore, C B Tara CBT
Publication Date: 2017-11-23

Variant appearance in text: TGFBI: F547S
PubMed Link: 29170458
Variant Present in the following documents:
  • 41598_2017_16279_MOESM1_ESM.pdf
View BVdb publication page



CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.

Gene Therapy
Courtney, D G DG; Moore, J E JE; Atkinson, S D SD; Maurizi, E E; Allen, E H A EH; Pedrioli, D M L DM; McLean, W H I WH; Nesbit, M A MA; Moore, C B T CB
Publication Date: 2016-01

Variant appearance in text: TGFBI: F547S
PubMed Link: 26289666
Variant Present in the following documents:
  • gt201582x1.xls, 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: TGFBI: 1640T>C
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
View BVdb publication page