TYR c.1075C>T ;(p.Q359*)

Variant ID: 11-88961029-C-T

NM_000372.4(TYR):c.1075C>T;(p.Q359*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Scientific Reports
Grønskov, Karen K; Jespersgaard, Cathrine C; Bruun, Gitte Hoffmann GH; Harris, Pernille P; Brøndum-Nielsen, Karen K; Andresen, Brage S BS; Rosenberg, Thomas T
Publication Date: 2019-01-24

Variant appearance in text: TYR: 1075C>T
PubMed Link: 30679655
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_37272.pdf
View BVdb publication page



Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

The Journal Of Investigative Dermatology
Hutton, Saunie M SM; Spritz, Richard A RA
Publication Date: 2008-10

Variant appearance in text: OCA1: 1075C>T
PubMed Link: 18463683
Variant Present in the following documents:
  • Main text
View BVdb publication page