Details for Combination OLI1647

VARIANTS COL4A5:c.1772G>A, p.Gly591Glu in Heterozygous form; COL4A4:c.4715C>T, p.Pro1572Leu in Heterozygous form
GENE COMBINATION COL4A4; COL4A5
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 301050; 104200; 203780
DISEASES Alport syndrome
REFERENCES 37097554
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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