OCA2 c.2347del ;(p.T783Hfs*2)

Variant ID: 15-28090190-GT-G

NM_000275.2(OCA2):c.2347del;(p.T783Hfs*2)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical and genetic variability in children with partial albinism.

Scientific Reports
Campbell, Patrick P; Ellingford, Jamie M JM; Parry, Neil R A NRA; Fletcher, Tracy T; Ramsden, Simon C SC; Gale, Theodora T; Hall, Georgina G; Smith, Katherine K; Kasperaviciute, Dalia D; Thomas, Ellen E; Lloyd, I Chris IC; Douzgou, Sofia S; Clayton-Smith, Jill J; Biswas, Susmito S; Ashworth, Jane L JL; Black, Graeme C M GCM; Sergouniotis, Panagiotis I PI
Publication Date: 2019-11-12

Variant appearance in text: OCA2: Thr783Hisfs*2
PubMed Link: 31719542
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_51768.pdf
View BVdb publication page