Details for Combination OLI218

VARIANTS KCNH2:c.3092_3096dup, p.Arg1033ValfsTer26 in Heterozygous form; KCNE2:c.170T>C, p.Ile57Thr in Heterozygous form
GENE COMBINATION KCNE2; KCNH2
OLIGOGENIC EFFECT Unknown
ETHNICITY Middle eastern
OMIM IDS 612347; 611818; 613695; 618447; 601005; 603830; 616249; 613485; 616247; 611819; 220400; 192500; 611820; 600919; 613688; 612955; 613693
DISEASES Familial long QT syndrome
REFERENCES 31320904
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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