OCA2 c.2051T>G ;(p.F684C)

Variant ID: 15-28171301-A-C

NM_000275.2(OCA2):c.2051T>G;(p.F684C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Discordant phenotypes in twins with infantile nystagmus.

Scientific Reports
Aamir, Abdullah A; Kuht, Helen J HJ; McLean, Rebecca J RJ; Maconachie, Gail D E GDE; Sheth, Viral V; Dawar, Basu B; Purohit, Ravi R; Sylvius, Nicolas N; Hisaund, Michael M; Zubcov-Iwantscheff, Alina A; Proudlock, Frank A FA; Gottlob, Irene I; Thomas, Mervyn G MG
Publication Date: 2021-02-02

Variant appearance in text: OCA2: F684C
PubMed Link: 33531592
Variant Present in the following documents:
  • Main text
  • 41598_2021_82368_MOESM1_ESM.pdf
  • 41598_2021_Article_82368.pdf
View BVdb publication page



DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Human Mutation
Simeonov, Dimitre R DR; Wang, Xinjing X; Wang, Chen C; Sergeev, Yuri Y; Dolinska, Monika M; Bower, Matthew M; Fischer, Roxanne R; Winer, David D; Dubrovsky, Genia G; Balog, Joan Z JZ; Huizing, Marjan M; Hart, Rachel R; Zein, Wadih M WM; Gahl, William A WA; Brooks, Brian P BP; Adams, David R DR
Publication Date: 2013-06

Variant appearance in text: OCA2: 2051T>G; F684C
PubMed Link: 23504663
Variant Present in the following documents:
  • Main text
View BVdb publication page