Variant ID: 15-28200303-C-A

NM_000275.2(OCA2):c.1842+1G>T

This variant was identified in 4 publications




Publications:


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: 1842+1G>T
PubMed Link: 28451379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Importance of nonsynonymous OCA2 variants in human eye color prediction.

Molecular Genetics & Genomic Medicine
JD Andersen, C Pietroni, P Johansen, MM Andersen, V Pereira, C Børsting, N Morling
Publication Date: 2016-07

Variant appearance in text: rs387906240
PubMed Link: 27468418
Variant Present in the following documents:
  • Main text
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: 1842+1G>T
PubMed Link: 23504663
Variant Present in the following documents:
  • NIHMS464945-supplement-Supp_Material_S1.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
SM Hutton, RA Spritz
Publication Date: 2008-10

Variant appearance in text: OCA2: 1842+1G>T
PubMed Link: 18463683
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000353809.5 c.1770+1G>T - splice_donor_variant - 16/22
ENST00000354638.3 c.1842+1G>T - splice_donor_variant - 17/23
ENST00000382996.2 c.1842+1G>T - splice_donor_variant - 17/18
NM_000275.3 c.1842+1G>T - splice_donor_variant - 17/23
NM_001300984.2 c.1770+1G>T - splice_donor_variant - 16/22