Details for Combination OLI972

VARIANTS COL4A3:c.4826G>A, p.Arg1609Gln in Heterozygous form; COL4A4:c.4351G>A, p.Gly1451Arg in Heterozygous form
GENE COMBINATION COL4A3; COL4A4
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 104200; 301050; 203780
DISEASES Alport syndrome
REFERENCES 33838161
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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