Details for Combination OLI151

VARIANTS ZIC3:c.49G>T, p.Gly17Cys in Heterozygous form; NKX2-5:c.448G>A, p.Val150Ile in Heterozygous form
GENE COMBINATION NKX2-5; ZIC3
OLIGOGENIC EFFECT True Digenic
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Ventricular septal defect
REFERENCES 19933292
SCORES
FAMmanual
3

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
22


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