Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos

1 c.1-5G>A NA Novel 1/0 None detected in 25 control individuals 2 c.274G>A p.Val92Met rs2228479 2/0 Associated with both melanoma and nonmelanoma skin cancer 3 c.444C>T p.Tyr148Tyr Novel 1/0 None detected in 25 control individuals 4 c.451C>T p.Arg151Cys rs1805007 1/0 Loss of function variant; associated with both melanoma and nonmelanoma skin cancer 5 c.488G>A p.Arg163Gln rs885479 9/1 Associated with melanoma, nonmelanoma skin cancer, especially basal cell carcinoma 6 c.515G>T p.Ser172Ile Reported mutation 1/0 None detected in 25 control individuals 7 c.699G>A p.Gln233Gln rs146544450 2/0 Not expected to have any biological effect 8 c.942A>G p.Thr314Thr rs2228478 24/2 Not expected to have any biological effect