Details for Combination OLI232

VARIANTS ABCC9:c.3594G>A, p.Met1198Ile in Heterozygous form; TTN:c.9359G>A, p.Arg3120Gln in Heterozygous form; TTN:c.93319C>T, p.Arg31107Cys in Heterozygous form
GENE COMBINATION ABCC9; TTN
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 613684; 613424; 615092; 615396; 255310; 609470; 615373; 610543; 601493; 604169; 613426; 601494; 180849; 617760; 611878; 300580
DISEASES Left ventricular noncompaction; Rubinstein-Taybi syndrome
REFERENCES 25979592
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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