Saudi Arabia

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_001701.4:c.1156G>A 1 NA


Father of 619232.1.1

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
619232.1.1 Saudi Arabia Hepatomegaly; Elevated circulating aspartate aminotransferase concentration; Elevated circulating alanine aminotransferase concentration; Hyperbilirubinemia; Rickets Male Yes Yes Patient from 'family 2' in the publication
619232.1.2 Saudi Arabia Rickets; Decreased body weight Female Yes Yes Sister of 619232.1.1
619232.1.4 Saudi Arabia Female Mother of 619232.1.1
Back to search Result
© CAGS 2024. All rights reserved.