×

Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Hypotrichosis Type 3 (KRT74) Woolly Hair Autosomal Dominant 12q12-q14.1 Missense KRT74 444C>G Asn148Lys Amino Acid Substitution 0/Shimomura et al., 2010
Hypotrichosis Type 3 (KRT74) Woolly & hypotrichosis Hair Autosomal Dominant 12q12-14.1 Splice site KRT74 IVS8-1G>A Exon 9 skipping Frame shift mutation 0/Wasif et al., 2011
Hypotrichosis Type 3 (KRT74) Hypotrichosis Hair Autosomal Dominant 12q12-q14.1 Missense KRT74 1444G>A Asp482Asn Amino Acid Substitution 0/Wasif et al., 2011