Details for Combination OLI548

VARIANTS DSP:c.1282_1283insA, p.Asn428Ter in Heterozygous form; JUP:c.1393C>T, p.Arg465Cys in Heterozygous form
GENE COMBINATION DSP; JUP
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Arrhythmogenic right ventricular cardiomyopathy
REFERENCES 25765472
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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