Details for Combination OLI1278

VARIANTS PROKR2:c.472G>A, p.Val158Ile in Heterozygous form; TACR3:c.437C>T, p.Ala146Val in Heterozygous form
GENE COMBINATION PROKR2; TACR3
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 614838; 614841; 615270; 614837; 612702; 610628; 614880; 613375; 147950; 614839; 616511; 612225; 610508; 614840; 146110; 615269; 244200; 612370; 606391; 613370; 308700; 614858; 125850; 606394; 614842; 606392; 615266; 125851; 616329; 609812; 600496
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 36531499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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