Details for Combination OLI1320

VARIANTS ANOS1:c.1871T>G, p.Leu624Arg in Hemizygous form; PROKR2:c.1000G>A, p.Val334Met in Heterozygous form
GENE COMBINATION ANOS1; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY South Asian
OMIM IDS 615269; 616030; 147950; 614837; 612370; 614897; 615270; 615266; 244200; 308700; 612702; 615267; 615271; 614880; 610628; 614858; 618841; 614838; 614840
DISEASES Kallmann syndrome
REFERENCES 36138264
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
0202

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
00


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