Details for Combination OLI1734

VARIANTS AMELX:c.208C>A, p.Pro70Thr in Hemizygous form; WNT10A:c.682T>A, p.Phe228Ile in Heterozygous form
GENE COMBINATION AMELX; WNT10A
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 104510; 104530; 130900; 617217; 612529; 301200; 204650; 615887; 616221; 616270; 204700; 301201; 104500; 613211; 614832
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.