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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.
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: 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