Details for Combination OLI1465

VARIANTS RELN:c.2689G>A, p.Asp897Asn in Heterozygous form; RELN:c.5108C>G, p.Pro1703Arg in Heterozygous form; ORAI1:c.126_127insA, p.Pro43ThrfsTer47 in Heterozygous form
GENE COMBINATION ORAI1; RELN
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Rare pervasive developmental disorder
REFERENCES 35668055
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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