Details for Combination OLI422

VARIANTS AXL:c.-40C>T, p.Leu1extMet-13 in Heterozygous form; CXCR4:c.236A>C, p.His79Pro in Heterozygous form
GENE COMBINATION AXL; CXCR4
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
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 27502037
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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