Details for Combination OLI852

VARIANTS ANOS1:c.1678G>A, p.Val560Ile in Heterozygous form; PROKR2:c.271C>T, p.Leu91Phe in Heterozygous form
GENE COMBINATION ANOS1; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 618841; 615269; 614858; 615271; 615267; 614840; 610628; 614880; 614837; 614897; 244200; 614838; 612702; 616030; 612370; 147950; 615266; 308700; 615270
DISEASES Kallmann syndrome
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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