Details for Combination OLI1308

VARIANTS RPL3L:c.724C>T, p.Arg242Trp in Heterozygous form; AGRN:c.874T>C, p.Tyr292His in Homozygous form
GENE COMBINATION AGRN; RPL3L
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 604772; 614916; 611938; 614021; 615441
DISEASES Catecholaminergic polymorphic ventricular tachycardia
REFERENCES 35341025
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
11


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