TYR c.228C>G ;(p.D76E)

Variant ID: 11-88911349-C-G

NM_000372.4(TYR):c.228C>G;(p.D76E)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: 228C>G
PubMed Link: 30679655
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_37272.pdf
View BVdb publication page