Details for Combination OLI445

VARIANTS KCNQ1:p.Arg518Ter in Heterozygous form; SCN5A:c.4844TCTT>T, p.Phe1617del in Heterozygous form
GENE COMBINATION KCNQ1; SCN5A
OLIGOGENIC EFFECT Monogenic+Modifier
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 25236808
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
22


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