Details for Combination OLI979

VARIANTS PLEC:c.9739C>T, p.Arg3247Trp in Heterozygous form; ERG:c.275G>A, p.Cys92Tyr in Heterozygous form; H4C2:c.160G>A, p.Glu54Lys in Heterozygous form; NCOR2:c.3698C>T, p.Thr1233Met in Heterozygous form
GENE COMBINATION ERG; H4C2; NCOR2; PLEC
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 611878; 615396; 300580; 601494; 615092; 609470; 613426; 615373; 601493; 613424; 617760; 604169; 255310
DISEASES Left ventricular noncompaction
REFERENCES 34752814
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
101

FUN
manualmeta
00

FINAL
manualmeta
00


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