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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) Depigmented Hair, Skin and Retinal Epithelium Autosomal Recessive 11q14.3 Deletion TYR 943_948delTCAGCT S315_A316del In-frame deletion 0/Forshew et al., 2005
Oculocutaneous Albinism (OCA1, TYR) Depigmented Hair, Skin and Retinal Epithelium Autosomal Recessive 11q14.3 Substitution and Deletion TYR 832C>T/ 943_948delTCAGCT R278X/ S315_A316del Compound Heterozygous 0/Forshew et al., 2005
Oculocutaneous Albinism (OCA1, TYR) Depigmented Hair, Skin and Retinal Epithelium Autosomal Recessive 11q14.3 Substitution TYR C1126T Q376X Nonsense 0/Tripathi et al., 1993
Oculocutaneous Albinism (OCA1, TYR) Depigmented Hair, Skin and Retinal Epithelium Autosomal Recessive 11q14.3 Substitution TYR 982G>C E328Q Missense 0/Tripathi et al., 1993