HBRF

277900.30.5

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Country

Lebanon

HPO Terms

Cirrhosis; Kayser-Fleischer ring; Increased urinary copper concentration;
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_000053.3:c.2071G>A 2
NM_000053.3:c.1216T>G 2
NM_000053.3:c.2495A>G 2
NM_000053.3:c.3419T>C 2
NM_000053.3:c.2855G>A 2
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Remarks

First cousin once removed of 277900.29.1, 277900.29.2, 277900.29.3, 277900.29.4, 277900.29.6, 277900.29.7, 277900.29.2.8

References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
277900.30.1 Lebanon Cirrhosis; Kayser-Fleischer ring; Increased urinary copper concentration; Male Yes Yes Sibling of 277900.29.2, 277900.29.3, 277900.29.4, 277900.29.6, 277900.29.7, 277900.29.2.8
277900.30.2 Lebanon Hepatitis; Female Yes Yes Detected by screening
277900.30.3 Lebanon Hepatitis; Female Yes Yes Detected by screening
277900.30.4 Lebanon Hepatitis; Male Yes Yes Detected by screening
277900.30.6 Lebanon ; Male Yes Yes
277900.30.7 Lebanon ; Male Yes Yes
277900.30.8 Lebanon ; Male Yes Yes
277900.30.9 Lebanon ; Female Yes Yes Mother of 277900.29.1, 277900.29.2, 277900.29.3, 277900.29.4, 277900.29.6, 277900.29.7, 277900.29.2.8
277900.30.10 Lebanon ; Male Yes Yes Father of 277900.29.1, 277900.29.2, 277900.29.3, 277900.29.4, 277900.29.6, 277900.29.7, 277900.29.2.8
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© CAGS 2024. All rights reserved.