Details for Combination OLI1164

VARIANTS WDR11:c.2305A>G, p.Met769Val in Heterozygous form; PROKR2:c.802C>T, p.Arg268Cys in Heterozygous form
GENE COMBINATION PROKR2; WDR11
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
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 34198905
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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