Details for Combination OLI550

VARIANTS KCNQ1:c.1748G>A, p.Arg583His in Heterozygous form; KCNH2:c.323G>A, p.Cys108Tyr in Heterozygous form
GENE COMBINATION KCNH2; KCNQ1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 601005; 611819; 613688; 613693; 611820; 612955; 616249; 612347; 220400; 600919; 192500; 611818; 613485; 603830; 616247; 618447; 613695
DISEASES Familial long QT syndrome
REFERENCES 28749435
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
11


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