HBRF

619232.1.4

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Country

Saudi Arabia
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Sex

Female

Subject Variants

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

Mother of 619232.1.1

References

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
619232.1.3 Saudi Arabia Male Father of 619232.1.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.