Details for Combination OLI1476

VARIANTS MYO15A:p.Glu1499Asp in Heterozygous form; CELSR1:p.Val392Ala in Heterozygous form; CELSR1:p.Thr2568Met 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
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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