Details for Combination OLI780

VARIANTS GNRHR:p.Thr269Met in Heterozygous form; KISS1R:p.Gly56AlafsTer21 in Heterozygous form
GENE COMBINATION GNRHR; KISS1R
OLIGOGENIC EFFECT Unknown
ETHNICITY South Asian
OMIM IDS 610628; 613375; 613370; 614840; 614880; 606394; 125851; 614842; 600496; 615269; 606392; 125850; 615270; 612370; 308700; 612225; 616329; 147950; 606391; 610508; 614858; 614839; 609812; 244200; 614837; 614841; 616511; 614838; 615266; 612702; 146110
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 26708526
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
101

FUN
manualmeta
01

FINAL
manualmeta
00


Found any issues with the data on this page? Report this entry.