Details for Combination OLI1803

VARIANTS MYO5A:c.2401C>T, p.Arg801Trp in Heterozygous form; MYH9:c.3334C>T, p.Gln1112Ter in Heterozygous form
GENE COMBINATION MYH9; MYO5A
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 614435; 241550
DISEASES Hypoplastic left heart syndrome
REFERENCES 36580305
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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