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; 616559; 609942; 615355; 618499; 610733; 611553; 613224; 163950; 605275; 618624; 616564
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


Found any issues with the data on this page? Report this entry.