Variant ID: 15-28228529-T-C

NM_000275.2(OCA2):c.1465A>G;(p.Asn489Asp)

This variant was identified in 7 publications




Publications:


Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
CF Wright, B West, M Tuke, SE Jones, K Patel, TW Laver, RN Beaumont, J Tyrrell, AR Wood, TM Frayling, AT Hattersley, MN Weedon
Publication Date: 2019-02-07

Variant appearance in text: OCA2: N489D; rs121918170
PMID: 30665703
View BVdb publication page



Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer
TP Potjer, S Bollen, AJEM Grimbergen, R van Doorn, NA Gruis, CJ van Asperen, FJ Hes, N van der Stoep,
Publication Date: 2019-05-15

Variant appearance in text: OCA2: 1465A>G; Asn489Asp
PMID: 30414346
View BVdb publication page



Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Cell & Bioscience
J Gao, L D'Souza, K Wetherby, C Antolik, M Reeves, DR Adams, S Tumminia, X Wang
Publication Date: 2017

Variant appearance in text: OCA2: 1465A>G; N489D
PMID: 28451379
View BVdb publication page



An intracellular anion channel critical for pigmentation.

Elife
NW Bellono, IE Escobar, AJ Lefkovith, MS Marks, E Oancea
Publication Date: 2014-12-16

Variant appearance in text: OCA2: N489D
PMID: 25513726
View BVdb publication page



Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: OCA2: Asn489Asp
PMID: 20876667
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
SM Hutton, RA Spritz
Publication Date: 2008-10

Variant appearance in text: OCA2: 1465A>G; N489D
PMID: 18463683
View BVdb publication page



MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

American Journal Of Human Genetics
RA King, RK Willaert, RM Schmidt, J Pietsch, S Savage, MJ Brott, JP Fryer, CG Summers, WS Oetting
Publication Date: 2003-09

Variant appearance in text: OCA2: N489D
PMID: 12876664
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000353809.5 c.1393A>G p.Asn465Asp missense_variant 13/23 -
ENST00000354638.3 c.1465A>G p.Asn489Asp missense_variant 14/24 -
ENST00000382996.2 c.1465A>G p.Asn489Asp missense_variant 14/19 -
NM_000275.3 c.1465A>G p.Asn489Asp missense_variant 14/24 -
NM_001300984.2 c.1393A>G p.Asn465Asp missense_variant 13/23 -