277900.42.2

Country

Lebanon

HPO Terms

Increased urinary copper concentration
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Sex

Male

Family History

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_000053.3:c.3818C>T 2

Remarks

Sibling of 277900.42.1

References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
277900.42.1 Lebanon Cirrhosis; Ascites; Kayser-Fleischer ring; Increased urinary copper concentration Male Yes
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