Details for Combination OLI560

VARIANTS KCNQ3:c.1360C>T, p.Pro454Ser in Heterozygous form; CACNA1G:c.305G>A, p.Arg102Gln in Heterozygous form
GENE COMBINATION CACNA1G; KCNQ3
OLIGOGENIC EFFECT Unknown
ETHNICITY Tunisian
OMIM IDS 611277; 613828; 604403; 618482; 613060; 613863; 616172; 612279; 604233; 609800
DISEASES Generalized epilepsy with febrile seizures-plus
REFERENCES 29948376
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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