Details for Combination OLI388

VARIANTS COL4A4:c.4760C>G, p.Pro1587Arg in Heterozygous form; COL4A5:c.2051G>T, p.Gly684Val in Hemizygous form
GENE COMBINATION COL4A4; COL4A5
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 203780; 104200; 301050
DISEASES Alport syndrome
REFERENCES 25575550
SCORES
FAMmanual
1

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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