Details for Combination OLI1467

VARIANTS RELN:c.334T>C, p.Phe112Leu in Heterozygous form; RELN:c.5108C>G, p.Pro1703Arg in Heterozygous form; GRIN2C:c.193C>T, p.Leu65Phe in Heterozygous form; KDM6B:c.2012_2013del, p.Phe671Ter in Heterozygous form
GENE COMBINATION GRIN2C; KDM6B; RELN
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Rare pervasive developmental disorder
REFERENCES 35668055
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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