Details for Combination OLI364

VARIANTS KCNE2:c.178C>T, p.Phe60Leu in Heterozygous form; SCN5A:c.4868G>A, p.Arg1623Gln in Heterozygous form
GENE COMBINATION KCNE2; SCN5A
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
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 16922724
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


Found any issues with the data on this page? Report this entry.