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277900.30.10
Home
Subject Details
Country
Lebanon
HPO Terms
;
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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
1
NM_000053.3:c.1216T>G
1
NM_000053.3:c.2495A>G
1
NM_000053.3:c.3419T>C
1
NM_000053.3:c.2855G>A
1
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Remarks
Father of 277900.29.1, 277900.29.2, 277900.29.3, 277900.29.4, 277900.29.6, 277900.29.7, 277900.29.2.8
References
Barada et al, 2007
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
277900.30.5
Lebanon
Cirrhosis; Kayser-Fleischer ring; Increased urinary copper concentration;
Male
Yes
Yes
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
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
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