Details for Combination OLI1228

VARIANTS SCN5A:c.4868G>A, p.Arg1623Gln in Heterozygous form; KCNE1:c.253G>A, p.Asp85Asn in Heterozygous form
GENE COMBINATION KCNE1; SCN5A
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 612347; 611819; 616249; 220400; 612955; 603830; 613688; 611820; 601005; 613693; 611818; 616247; 618447; 192500; 613485; 613695; 600919
DISEASES Familial long QT syndrome
REFERENCES 15051636
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
212

FUN
manualmeta
12

FINAL
manualmeta
01


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