Details for Combination OLI551

VARIANTS KCNH2:c.323G>A, p.Cys108Tyr in Heterozygous form; KCNE1:c.112A>G, p.Ser38Gly in Homozygous form
GENE COMBINATION KCNE1; KCNH2
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 616249; 613688; 618447; 192500; 600919; 603830; 611819; 220400; 613485; 612955; 612347; 613693; 613695; 611820; 616247; 611818; 601005
DISEASES Familial long QT syndrome
REFERENCES 28749435
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
202

FUN
manualmeta
22

FINAL
manualmeta
11


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