OCA2 c.2242A>C ;(p.M748L)

Variant ID: 15-28116302-T-G

NM_000275.2(OCA2):c.2242A>C;(p.M748L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

Scientific Reports
O'Gorman, Luke L; Norman, Chelsea S CS; Michaels, Luke L; Newall, Tutte T; Crosby, Andrew H AH; Mattocks, Christopher C; Cree, Angela J AJ; Lotery, Andrew J AJ; Baple, Emma L EL; Ratnayaka, J Arjuna JA; Baralle, Diana D; Lee, Helena H; Osborne, Daniel D; Shawkat, Fatima F; Gibson, Jane J; Ennis, Sarah S; Self, Jay E JE
Publication Date: 2019-09-13

Variant appearance in text: OCA2: M748L
PubMed Link: 31519934
Variant Present in the following documents:
  • 41598_2019_49368_MOESM1_ESM.pdf
View BVdb publication page