Details for Combination OLI558

VARIANTS MAST4:c.4486G>A, p.Val1496Met in Heterozygous form; SCN1A:c.3899C>T, p.Thr1300Ile in Heterozygous form
GENE COMBINATION MAST4; SCN1A
OLIGOGENIC EFFECT Unknown
ETHNICITY Tunisian
OMIM IDS 611136; 617924; 608816; 611364; 254770; 604827; 607682; 613060; 607628; 614280
DISEASES Juvenile myoclonic epilepsy
REFERENCES 29948376
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
101

FUN
manualmeta
11

FINAL
manualmeta
00


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