Details for Combination OLI207

VARIANTS PROKR2:p.Val331Met in Heterozygous form; GNRHR:p.Arg240Gln in Heterozygous form
GENE COMBINATION GNRHR; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 612370; 308700; 614897; 616030; 612702; 614880; 614837; 615269; 615271; 614840; 615270; 244200; 618841; 147950; 615266; 614858; 610628; 614838; 615267
DISEASES Kallmann syndrome
REFERENCES 20022991
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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