Details for Combination OLI218

VARIANTS KCNH2:c.3092_3096dup, p.Arg1033ValfsTer26 in Heterozygous form; KCNE2:c.170T>C, p.Ile57Thr in Heterozygous form
GENE COMBINATION KCNE2; KCNH2
OLIGOGENIC EFFECT Unknown
ETHNICITY Middle eastern
OMIM IDS 613695; 601005; 613693; 612955; 613485; 616249; 192500; 611819; 611820; 603830; 600919; 611818; 616247; 613688; 220400; 618447; 612347
DISEASES Familial long QT syndrome
REFERENCES 31320904
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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