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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Hermansky-Pudlak Syndrome (HPS1) oculocutaneous albinism, platelet dysfunction Autosomal Recessive 10q24.2 Missense HPS1 1342T>C Trp448Arg Amino Acid Substitution Yousaf et al., 2016/2016
Hermansky-Pudlak Syndrome (HPS1) oculocutaneous albinism, platelet dysfunction Autosomal Recessive 10q24.2 Nonsense HPS1 2056C>T Gln686* Premature Termination Yousaf et al., 2016/2016
Hermansky-Pudlak Syndrome (HPS1) oculocutaneous albinism, platelet dysfunction Autosomal Recessive 10q24.2 Gross Deletion HPS1 g.10:98435762-98435882 Pro41Aspfs*12 Frame shift mutation & PTC Yousaf et al., 2016/2016