Details for Combination OLI285

VARIANTS PROKR2:c.802C>T, p.Arg268Cys in Heterozygous form; SEMA3A:c.1198A>G, p.Ile400Val in Heterozygous form
GENE COMBINATION PROKR2; SEMA3A
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 22927827
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
0212

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
01


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