Details for Combination OLI649

VARIANTS PLXNA1:c.4352A>G, p.Lys1451Arg in Heterozygous form; PLXNA1:c.859G>A, p.Val287Met in Heterozygous form; IGSF10:c.1188A>C, p.Glu396Asp in Heterozygous form
GENE COMBINATION IGSF10; PLXNA1
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 614838; 615270; 614837; 612702; 610628; 614880; 615267; 147950; 615271; 614897; 614840; 615269; 244200; 612370; 308700; 616030; 614858; 615266; 618841
DISEASES Kallmann syndrome
REFERENCES 30467832
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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