OCA2 c.2020C>G ;(p.L674V)

Variant ID: 15-28171332-G-C

NM_000275.2(OCA2):c.2020C>G;(p.L674V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes
Ullah, Muhammad Ikram MI
Publication Date: 2022-06-16

Variant appearance in text: OCA2: 2020C>G; Leu674Val
PubMed Link: 35741834
Variant Present in the following documents:
  • genes-13-01072.pdf
View BVdb publication page



Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lenassi, Eva E; Clayton-Smith, Jill J; Douzgou, Sofia S; Ramsden, Simon C SC; Ingram, Stuart S; Hall, Georgina G; Hardcastle, Claire L CL; Fletcher, Tracy A TA; Taylor, Rachel L RL; Ellingford, Jamie M JM; Newman, William D WD; Fenerty, Cecilia C; Sharma, Vinod V; Lloyd, I Chris IC; Biswas, Susmito S; Ashworth, Jane L JL; Black, Graeme C GC; Sergouniotis, Panagiotis I PI
Publication Date: 2020-04

Variant appearance in text: OCA2: 2020C>G; Leu674Val
PubMed Link: 31848469
Variant Present in the following documents:
  • 41436_2019_722_MOESM1_ESM.pdf
View BVdb publication page



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: L674V
PubMed Link: 31519934
Variant Present in the following documents:
  • 41598_2019_49368_MOESM1_ESM.pdf
View BVdb publication page