Details for Combination OLI1218

VARIANTS KCNQ1:c.935C>T, p.Thr312Ile in Heterozygous form; KCNE1:c.253G>A, p.Asp85Asn in Heterozygous form
GENE COMBINATION KCNE1; KCNQ1
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 612347; 613693; 611819; 192500; 601005; 603830; 616247; 611820; 613695; 616249; 613485; 618447; 612955; 600919; 220400; 611818; 613688
DISEASES Familial long QT syndrome
REFERENCES 15051636
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
00


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