Details for Combination OLI1735

VARIANTS ACP4:c.626T>C, p.Leu209Pro in Heterozygous form; ACP4:c.1199C>A, p.Ala400Asp in Heterozygous form; WNT10A:c.682T>A, p.Phe228Ile in Heterozygous form
GENE COMBINATION ACP4; WNT10A
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 130900; 613211; 301200; 104500; 617217; 301201; 612529; 616221; 614832; 616270; 104510; 204700; 104530; 204650; 615887
DISEASES Amelogenesis imperfecta
REFERENCES 37228816
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


Found any issues with the data on this page? Report this entry.