Details for Combination OLI318

VARIANTS COL4A4:c.1471C>T, p.Leu491Phe in Heterozygous form; COL4A3:c.3418+1G>T, in Heterozygous form; COL4A3:c.4664C>T, p.Ala1555Val in Heterozygous form; COL4A6:c.4825G>A, p.Ala1609Thr in Heterozygous form
GENE COMBINATION COL4A3; COL4A4; COL4A6
OLIGOGENIC EFFECT Dual Molecular Diagnosis
ETHNICITY East Asian
OMIM IDS 104200; 301050; 203780
DISEASES Alport syndrome; Benign familial hematuria
REFERENCES 29742505
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


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