Details for Combination OLI1217

VARIANTS KCNQ1:c.502G>C, p.Gly168Arg in Heterozygous form; KCNE1:c.253G>A, p.Asp85Asn in Heterozygous form
GENE COMBINATION KCNE1; KCNQ1
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY Unknown
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 15051636
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
11


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