Details for Combination OLI606

VARIANTS MYH7:c.1159C>T, p.Leu387Phe in Heterozygous form; MRTFB:c.2010G>C, p.Gln670His in Heterozygous form; NKX2-5:c.355G>T, p.Ala119Ser in Heterozygous form
GENE COMBINATION MRTFB; MYH7; NKX2-5
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY Unknown
OMIM IDS 611878; 615396; 300580; 601494; 615092; 609470; 613426; 615373; 601493; 613424; 617760; 604169; 255310
DISEASES Left ventricular noncompaction
REFERENCES 31147515
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
313

FUN
manualmeta
33

FINAL
manualmeta
33


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