Details for Combination OLI358

VARIANTS SPRY4:c.202A>T, p.Thr68Ser in Heterozygous form; PLXNA1:p.Ala1210Val in Heterozygous form
GENE COMBINATION PLXNA1; SPRY4
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 614838; 308700; 614837; 147950; 618841; 612370; 615266; 615270; 615271; 614897; 616030; 614858; 610628; 614880; 244200; 615269; 615267; 614840; 612702
DISEASES Kallmann syndrome
REFERENCES 32389901
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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