Details for Combination OLI1247

VARIANTS COL4A3:c.469G>C, p.Gly157Arg in Heterozygous form; COL4A4:c.2510G>C, p.Gly837Ala in Heterozygous form
GENE COMBINATION COL4A3; COL4A4
OLIGOGENIC EFFECT Unknown
ETHNICITY Japanese
OMIM IDS N.A.
DISEASES Thin Basement Membrane Nephropathy
REFERENCES 36292665
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
01


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