Details for Combination OLI861

VARIANTS KISS1R:c.401C>T, p.Thr134Ile in Heterozygous form; B4GAT1:c.152C>T, p.Pro51Leu in Heterozygous form; EGFR:c.2492G>A, p.Arg831His in Heterozygous form
GENE COMBINATION B4GAT1; EGFR; KISS1R
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 614838; 308700; 614837; 147950; 618841; 612370; 615266; 615270; 615271; 614897; 616030; 614858; 610628; 614880; 244200; 615269; 615267; 614840; 612702
DISEASES Kallmann syndrome
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
01


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