Details for Combination OLI516

VARIANTS COL4A5:c.2732G>A, p.Gly911Glu in Heterozygous form; COL4A3:c.3691G>A, p.Gly1231Ser in Heterozygous form
GENE COMBINATION COL4A3; COL4A5
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 203780; 104200; 301050
DISEASES Alport syndrome
REFERENCES 27796712
SCORES
FAMmanual
1

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
01


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