Details for Combination OLI1642

VARIANTS COL17A1:c.4156+2dup, in Heterozygous form; RELT:c.260A>T, p.Asp87Val in Heterozygous form; RELT:c.521T>G, p.Leu174Arg in Heterozygous form
GENE COMBINATION COL17A1; RELT
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 613211; 612529; 616270; 615887; 616221; 301200; 617217; 204700; 104500; 204650; 104510; 614832; 301201; 130900; 104530
DISEASES Amelogenesis imperfecta
REFERENCES 37937686
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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