Details for Combination OLI361

VARIANTS KCNQ1:c.562delT, p.Trp188fs in Heterozygous form; KCNH2:c.2775dup, p.Pro926AlafsTer14 in Heterozygous form
GENE COMBINATION KCNH2; KCNQ1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
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 16922724
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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