Details for Combination OLI866

VARIANTS GNRHR:p.Arg240Gln in Heterozygous form; SEMA7A:c.442C>T, p.Arg148Trp in Heterozygous form
GENE COMBINATION GNRHR; SEMA7A
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 612370; 614897; 614837; 615269; 147950; 614838; 614858; 308700; 244200; 612702; 614880; 615271; 616030; 610628; 615267; 615270; 618841; 614840; 615266
DISEASES Kallmann syndrome
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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