Details for Combination OLI1474

VARIANTS MYO15A:c.4142+6T>C, in Heterozygous form; CELSR1:p.Asp940Asn in Heterozygous form
GENE COMBINATION CELSR1; MYO15A
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 614435; 241550
DISEASES Hypoplastic left heart syndrome
REFERENCES 35133174
SCORES
FAMmanual
2

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


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