Details for Combination OLI1221

VARIANTS KCNH2:c.1682C>T, p.Ala561Val in Heterozygous form; KCNE1:c.253G>A, p.Asp85Asn in Heterozygous form
GENE COMBINATION KCNE1; KCNH2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 600919; 613695; 192500; 220400; 616249; 616247; 611819; 612347; 601005; 618447; 613693; 611818; 613688; 612955; 603830; 611820; 613485
DISEASES Familial long QT syndrome
REFERENCES 15051636
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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