Details for Combination OLI1469

VARIANTS RELN:c.59C>T, p.Thr20Met in Heterozygous form; RELN:c.6458G>A, p.Gly2153Asp in Heterozygous form; CACNA1A:c.6772C>A, p.His2258Asn in Heterozygous form; CACNB2:c.1891C>T, p.Arg631Cys in Heterozygous form
GENE COMBINATION CACNA1A; CACNB2; 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
111

FUN
manualmeta
11

FINAL
manualmeta
00


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