TGFBI c.1616T>A ;(p.V539D)

Variant ID: 5-135392422-T-A

NM_000358.2(TGFBI):c.1616T>A;(p.V539D)

This variant was identified in 10 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: 1616T>A
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: V539D
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: V539D
PubMed Link: 26289666
Variant Present in the following documents:
  • gt201582x1.xls, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TGFBI: V539D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
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: LCD1: V539D
PubMed Link: 22876129
Variant Present in the following documents:
  • Main text
  • mv-v18-2012.pdf
View BVdb publication page



Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.

Molecular Vision
Hou, Yu-Chih YC; Wang, I-Jong IJ; Hsiao, Cheng-Hsiang CH; Chen, Wei-Li WL; Hu, Fung-Rong FR
Publication Date: 2012

Variant appearance in text: LCD1: V539D
PubMed Link: 22355247
Variant Present in the following documents:
  • Main text
  • mv-v18-362.pdf
View BVdb publication page



Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).

Molecular Vision
Romero, Pablo P; Moraga, Mauricio M; Herrera, Luisa L
Publication Date: 2010-08-13

Variant appearance in text: TGFBI: V539D
PubMed Link: 20806046
Variant Present in the following documents:
  • Main text
  • mv-v16-1601.pdf
View BVdb publication page



A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.

Molecular Vision
Zhang, Chunmei C; Zeng, Guang G; Lin, Hui H; Li, Dandan D; Zhao, Liming L; Zhou, Nan N; Qi, Yanhua Y
Publication Date: 2009-11-28

Variant appearance in text: TGFBI: V539D
PubMed Link: 19956413
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: TGFBI: 1616T>A
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

Molecular Vision
Romero, Pablo P; Vogel, Marlene M; Diaz, Jose-Manuel JM; Romero, Maria-Patricia MP; Herrera, Luisa L
Publication Date: 2008-05-07

Variant appearance in text: TGFBI: V539D
PubMed Link: 18470323
Variant Present in the following documents:
  • Main text
  • mv-v14-829.pdf
View BVdb publication page