Details for Combination OLI362

VARIANTS KCNQ1:c.728G>C, p.Arg243Pro in Heterozygous form; KCNH2:c.2842C>T, p.Arg948Cys in Heterozygous form
GENE COMBINATION KCNH2; KCNQ1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
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 16922724
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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