SLC4A11 c.2407C>T ;(p.H803Y)

Variant ID: 20-3209056-G-A

NM_001174089.1(SLC4A11):c.2407C>T;(p.H803Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.

Molecular Vision
Kodaganur, Srinivas Gopinath SG; Kapoor, Saketh S; Veerappa, Avinash M AM; Tontanahal, Sagar Jagannath SJ; Sarda, Astha A; Yathish, S S; Prakash, D Ravi DR; Kumar, Arun A
Publication Date: 2013

Variant appearance in text: CHED2: 2407C>T
PubMed Link: 23922488
Variant Present in the following documents:
  • Main text
  • mv-v19-1694.pdf
View BVdb publication page



Genetics of the corneal endothelial dystrophies: an evidence-based review.

Clinical Genetics
Aldave, A J AJ; Han, J J; Frausto, R F RF
Publication Date: 2013-08

Variant appearance in text: SLC4A11: 2407C>T
PubMed Link: 23662738
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: SLC4A11: 2407C>T
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
View BVdb publication page