Details for Combination OLI1802

VARIANTS MYO5A:c.2401C>T, p.Arg801Trp in Heterozygous form; MYH11:c.5772G>C, p.Met1924Ile in Heterozygous form
GENE COMBINATION MYH11; MYO5A
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 614435; 241550
DISEASES Hypoplastic left heart syndrome
REFERENCES 36580305
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


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