PMID: 12876664

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
2003-09

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28116316-G-A OCA2 c.2228C>T p.Pro743Leu Missense 21/24 -
15-28228529-T-C OCA2 c.1465A>G p.Asn489Asp Missense 14/24 -
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
15-28261272-T-C OCA2 c.868A>G p.Arg290Gly Missense 8/24 -
15-28171315-C-G OCA2 c.2037G>C p.Trp679Cys Missense 19/24 -
15-28230247-C-T OCA2 c.1327G>A p.Val443Ile Missense 13/24 -