Details for Combination OLI973

VARIANTS COL4A3:c.2342_2350del, p.Thr781_Gly783del in Heterozygous form; COL4A4:c.5045G>A, p.Arg1682Gln in Heterozygous form
GENE COMBINATION COL4A3; COL4A4
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 203780; 104200; 301050
DISEASES Alport syndrome
REFERENCES 33838161
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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