Details for Combination OLI891

VARIANTS LHB:c.262C>T, p.Arg88Trp in Heterozygous form; SEMA7A:c.1000G>A, p.Val334Ile in Heterozygous form
GENE COMBINATION LHB; SEMA7A
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 615269; 147950; 125850; 614842; 613375; 600496; 614837; 612370; 616329; 615270; 614839; 615266; 616511; 606392; 613370; 125851; 606394; 244200; 308700; 606391; 612702; 610508; 146110; 614880; 612225; 610628; 614858; 609812; 614841; 614838; 614840
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
01


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