Details for Combination OLI1707

VARIANTS CLCN3:c.1952A>C, p.Asp651Ala in Heterozygous form; LRIF1:c.1240A>G, p.Ile414Val in Heterozygous form
GENE COMBINATION CLCN3; LRIF1
OLIGOGENIC EFFECT Unknown
ETHNICITY Qatari
OMIM IDS N.A.
DISEASES Rare pervasive developmental disorder
REFERENCES 38025430
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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