Details for Combination OLI648

VARIANTS PROKR2:p.Arg85Leu in Homozygous form; PLXNA1:c.2507G>A, p.Arg836His in Heterozygous form; PLXNA1:c.1582C>T, p.Arg528Trp in Heterozygous form
GENE COMBINATION PLXNA1; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 615269; 616030; 147950; 614837; 612370; 614897; 615270; 615266; 244200; 308700; 612702; 615267; 615271; 614880; 610628; 614858; 618841; 614838; 614840
DISEASES Kallmann syndrome
REFERENCES 30467832
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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