Details for Combination OLI363

VARIANTS KCNH2:c.298C>G, p.Arg100Gly in Heterozygous form; SCN5A:c.5455G>A, p.Asp1819Asn in Heterozygous form
GENE COMBINATION KCNH2; SCN5A
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 612347; 611819; 616249; 220400; 612955; 603830; 613688; 611820; 601005; 613693; 611818; 616247; 618447; 192500; 613485; 613695; 600919
DISEASES Familial long QT syndrome
REFERENCES 16922724
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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