Details for Combination OLI981

VARIANTS RYR2:c.2350A>T, p.Ile784Phe in Heterozygous form; GJA5:c.286G>T, p.Ala96Ser in Heterozygous form; TNNI3K:c.1033C>T, p.Arg244Ter in Heterozygous form
GENE COMBINATION GJA5; RYR2; TNNI3K
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 613600
DISEASES Torsade-de-pointes syndrome with short coupling interval
REFERENCES 33664309
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
01


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