Details for Combination OLI357

VARIANTS IL17RD:p.Ile329Met in Heterozygous form; LEPR:p.1128del in Heterozygous form; WDR11:p.Val336Phe in Heterozygous form; HS6ST1:p.Pro242Leu in Heterozygous form
GENE COMBINATION HS6ST1; IL17RD; LEPR; WDR11
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 615269; 618841; 244200; 615267; 614880; 614837; 615270; 612702; 614838; 615271; 614840; 615266; 616030; 147950; 610628; 612370; 614858; 308700; 614897
DISEASES Kallmann syndrome
REFERENCES 32389901
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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