Details for Combination OLI1281

VARIANTS PROKR2:c.916G>A, p.Val306Met in Heterozygous form; KISS1R:c.424T>G, p.Tyr142Asp in Heterozygous form
GENE COMBINATION KISS1R; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 612225; 146110; 125851; 244200; 614880; 606391; 147950; 615266; 613375; 614858; 616329; 613370; 614838; 609812; 614842; 308700; 615269; 610628; 614837; 612702; 606394; 614840; 614841; 614839; 606392; 615270; 125850; 616511; 612370; 600496; 610508
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 36531499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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