Details for Combination OLI286

VARIANTS PROKR2:c.802C>T, p.Arg268Cys in Heterozygous form; SEMA3A:c.1303G>A, p.Val435Ile in Heterozygous form
GENE COMBINATION PROKR2; SEMA3A
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 612370; 610628; 614837; 615270; 614840; 614858; 616030; 308700; 618841; 614897; 147950; 614838; 615267; 615271; 615266; 612702; 244200; 614880; 615269
DISEASES Kallmann syndrome
REFERENCES 22927827
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
0212

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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