Details for Combination OLI985

VARIANTS KCNH2:c.921_923del, p.307_308del in Heterozygous form; SCN5A:c.5594G>A, p.Arg1865His in Heterozygous form
GENE COMBINATION KCNH2; SCN5A
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 612347; 611819; 616249; 220400; 612955; 603830; 613688; 611820; 601005; 613693; 611818; 616247; 618447; 192500; 613485; 613695; 600919
DISEASES Familial long QT syndrome
REFERENCES 34755423
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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