Details for Combination OLI1288

VARIANTS PROKR2:c.518T>G, p.Leu173Arg in Heterozygous form; GNRHR:c.317A>G, p.Gln106Arg in Heterozygous form
GENE COMBINATION GNRHR; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
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 36531499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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