Details for Combination OLI1736

VARIANTS FAM83H:c.1498C>G, p.Leu500Val in Heterozygous form; WDR72:c.1283T>G, p.Ile428Ser in Homozygous form
GENE COMBINATION FAM83H; WDR72
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 130900; 301201; 615887; 617217; 104530; 204650; 612529; 104510; 616221; 613211; 301200; 616270; 104500; 614832; 204700
DISEASES Amelogenesis imperfecta
REFERENCES 37228816
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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