Details for Combination OLI557

VARIANTS CACNA1H:c.883C>G, p.Arg295Gly in Heterozygous form; MAST4:c.3602C>G, p.Pro1201Arg in Heterozygous form
GENE COMBINATION CACNA1H; MAST4
OLIGOGENIC EFFECT Unknown
ETHNICITY Tunisian
OMIM IDS 604403; 612279; 612269; 616172; 613828; 618482; 600131; 607681; 609800; 604233; 611277; 613060; 611136; 613863; 611942
DISEASES Generalized epilepsy with febrile seizures-plus; Childhood absence epilepsy
REFERENCES 29948376
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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