Details for Combination OLI849

VARIANTS PROKR2:c.308C>T, p.Ala103Val in Heterozygous form; DMXL2:c.4878G>C, p.Gln1626His in Heterozygous form; DCAF17:c.1507T>C, p.Tyr503His in Heterozygous form
GENE COMBINATION DCAF17; DMXL2; PROKR2
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 33208564
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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