Details for Combination OLI1648

VARIANTS COL4A3:c.2692G>A, p.Gly898Arg in Heterozygous form; COL4A4:c.3707-3T>C, in Heterozygous form
GENE COMBINATION COL4A3; COL4A4
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 203780; 104200; 301050
DISEASES Alport syndrome
REFERENCES 37097554
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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