Details for Combination OLI377

VARIANTS COL4A4:c.3452G>C, p.Gly1151Ala in Heterozygous form; COL4A3:c.898G>A, p.Gly300Arg in Heterozygous form
GENE COMBINATION COL4A3; COL4A4
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 301050; 104200; 203780
DISEASES Alport syndrome
REFERENCES 25575550
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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