Details for Combination OLI568

VARIANTS PTPN11:p.Thr468Met in Heterozygous form; SOS1:p.Pro340Ser in Heterozygous form
GENE COMBINATION PTPN11; SOS1
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 613706; 609942; 616564; 615355; 611553; 163950; 618499; 618624; 605275; 613224; 616559; 610733
DISEASES Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy
REFERENCES 22585553
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
00


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