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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
Xeroderma Pigmentosum, Group A (XPA) sensitive to sunlight&abnormal pigments Autosomal Recessive 9q22.33 Deletion XPA 654delA Lys218Asnfs*5 Frame shift mutation & PTC 0/Nasir et al., 2013
Xeroderma Pigmentosum, Group A (XPA) sensitive to sunlight&abnormal pigments Autosomal Recessive 9q22.33 Splice site XPA 555+8A>G Frame shift mutation 0/Sethi et al., 2016
Xeroderma Pigmentosum, Group A (XPA) sensitive to sunlight&abnormal pigments Autosomal Recessive 9q22.33 Nonsense XPA 682C>T Arg228* Premature Termination 0/Sethi et al., 2016