Details for Combination OLI521

VARIANTS ENAM:c.588+1delG, p.Asn197IlefsTer81 in Heterozygous form; LAMA3:c.1559G>A, p.Cys520Tyr in Heterozygous form
GENE COMBINATION ENAM; LAMA3
OLIGOGENIC EFFECT Unknown
ETHNICITY Turkish
OMIM IDS 130900; 613211; 301200; 104500; 617217; 301201; 612529; 616221; 614832; 616270; 104510; 204700; 104530; 204650; 615887
DISEASES Amelogenesis imperfecta
REFERENCES 31478359
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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