Details for Combination OLI645

VARIANTS CACNA1C:c.5747A>G, p.Gln1916Arg in Heterozygous form; SCN5A:c.3578G>A, p.Arg1193Gln in Heterozygous form
GENE COMBINATION CACNA1C; SCN5A
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 613601
DISEASES Early repolarization syndrome
REFERENCES 28493952
SCORES
FAMmanual
1

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
202

FUN
manualmeta
22

FINAL
manualmeta
11


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