Details for Combination OLI1220

VARIANTS KCNH2:c.2764C>T, p.Arg922Trp in Heterozygous form; KCNE1:c.221C>T, p.Ser74Leu in Heterozygous form
GENE COMBINATION KCNE1; KCNH2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
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 15051636
SCORES
FAMmanual
2

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
212

FUN
manualmeta
12

FINAL
manualmeta
12


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