Details for Combination OLI1216

VARIANTS KCNQ1:c.1022C>T, p.Ala341Val in Heterozygous form; KCNE1:c.379C>A, p.Pro127Thr in Heterozygous form
GENE COMBINATION KCNE1; KCNQ1
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
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 15051636
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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