Details for Combination OLI1342

VARIANTS PROKR2:c.239G>A, p.Arg80His in Heterozygous form; PROKR2:c.169G>T, p.Gly57Cys in Heterozygous form; SEMA3A:c.1453-9delG, in Heterozygous form
GENE COMBINATION PROKR2; SEMA3A
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
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 35669683
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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