Details for Combination OLI1345

VARIANTS KISS1R:c.149C>A, p.Ala50Glu in Heterozygous form; CCKBR:c.1247G>A, p.Arg416His in Heterozygous form
GENE COMBINATION CCKBR; KISS1R
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 614838; 615270; 614837; 612702; 610628; 614880; 615267; 147950; 615271; 614897; 614840; 615269; 244200; 612370; 308700; 616030; 614858; 615266; 618841
DISEASES Kallmann syndrome
REFERENCES 35669683
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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