Details for Combination OLI870

VARIANTS PROKR2:c.905C>T, p.Pro302Leu in Heterozygous form; EFNA5:c.668C>T, p.Ala223Val in Heterozygous form
GENE COMBINATION EFNA5; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 615271; 610628; 612370; 147950; 614840; 614880; 616030; 618841; 615267; 614897; 244200; 614838; 308700; 615270; 612702; 614837; 615266; 614858; 615269
DISEASES Kallmann syndrome
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
01


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