Details for Combination OLI971

VARIANTS COL4A3:c.345del, p.Pro116LeufsTer37 in Heterozygous form; COL4A4:c.1100dup, p.Pro369ThrfsTer61 in Heterozygous form
GENE COMBINATION COL4A3; COL4A4
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 301050; 104200; 203780
DISEASES Alport syndrome
REFERENCES 33838161
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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