Details for Combination OLI550

VARIANTS KCNQ1:c.1748G>A, p.Arg583His in Heterozygous form; KCNH2:c.323G>A, p.Cys108Tyr in Heterozygous form
GENE COMBINATION KCNH2; KCNQ1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 613695; 601005; 613693; 612955; 613485; 616249; 192500; 611819; 611820; 603830; 600919; 611818; 616247; 613688; 220400; 618447; 612347
DISEASES Familial long QT syndrome
REFERENCES 28749435
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
11


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