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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Oculocutaneous Albinism (OCA1, TYR) Brown Hair, Pinkish Skin, Grey/Brown Iris, Autosomal Recessive 11q14.3 Substitution TYR 62C>T Pro21Leu Missense 0/Jaworek et al., 2012
Oculocutaneous Albinism (OCA1, TYR) White Hair, Pinkish Skin, Grey/Blue Iris Autosomal Recessive 11q14.3 Substitution TYR 103T>C Cys35Arg Missense 0/Jaworek et al., 2012
Oculocutaneous Albinism (OCA1, TYR) Brown Hair, White Skin, Foveal Hypoplasia Autosomal Recessive 11q14.3 Substitution TYR 896A>G Arg299His Missense 0/Jaworek et al., 2012
Oculocutaneous Albinism (OCA1, TYR) Yellwo Hair, White Skin and Light Grey Iris Autosomal Recessive 11q14.3 Substitution TYR 1217C>T Pro406Leu Missense 0/Jaworek et al., 2012
Oculocutaneous Albinism (OCA1, TYR) White Hair, White Skin and Grey/Blue Iris Autosomal Recessive 11q14.3 Substitution TYR 1255G>A Gly419Arg Missense 0/Jaworek et al., 2012
Oculocutaneous Albinism (OCA1, TYR) White Hair, Pinkish White Skin and Grey/Blue Iris Autosomal Recessive 11q14.3 Substitution TYR 1231T>C Tyr411His Missense 0/Jaworek et al., 2012
Oculocutaneous Albinism (OCA1, TYR) White Hair, White Skin and Light Brown Iris Autosomal Recessive 11q14.3 Substitution TYR 832C>T Arg278* Nonsense 0/Jaworek et al., 2012