Variant ID: 15-28171315-C-G

NM_000275.2(OCA2):c.2037G>C;(p.Trp679Cys)

This variant was identified in 4 publications




Publications:


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: 2037G>C; Trp679Cys
PMID: 30414346
View BVdb publication page



DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Human Mutation
DR Simeonov, X Wang, C Wang, Y Sergeev, M Dolinska, M Bower, R Fischer, D Winer, G Dubrovsky, JZ Balog, M Huizing, R Hart, WM Zein, WA Gahl, BP Brooks, DR Adams
Publication Date: 2013-06

Variant appearance in text: OCA2: 2037G>C; W679C
PMID: 23504663
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: Trp679Cys
PMID: 20876667
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: N/A
PMID: 12876664
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000353809.5 c.1965G>C p.Trp655Cys missense_variant 18/23 -
ENST00000354638.3 c.2037G>C p.Trp679Cys missense_variant 19/24 -
NM_000275.3 c.2037G>C p.Trp679Cys missense_variant 19/24 -
NM_001300984.2 c.1965G>C p.Trp655Cys missense_variant 18/23 -