Details for Combination OLI1460

VARIANTS RELN:c.7538C>G, p.Ser2513Cys in Heterozygous form; RELN:c.7634C>T, p.Ala2545Val in Heterozygous form; CACNA1H:c.2907+1G>A, in Heterozygous form
GENE COMBINATION CACNA1H; RELN
OLIGOGENIC EFFECT Unknown
ETHNICITY Brazilian
OMIM IDS N.A.
DISEASES Rare pervasive developmental disorder
REFERENCES 35668055
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
11


Found any issues with the data on this page? Report this entry.