Details for Combination OLI829

VARIANTS PRRT2:c.649dupC, p.Arg217ProfsTer8 in Heterozygous form; SCN1B:c.492T>C, p.Tyr164Tyr in Heterozygous form
GENE COMBINATION PRRT2; SCN1B
OLIGOGENIC EFFECT Unknown
ETHNICITY Turkish
OMIM IDS 605751; 612627; 617080; 607745; 601764
DISEASES Benign familial infantile epilepsy
REFERENCES 28566192
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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