Details for Combination OLI838

VARIANTS ENG:c.920dupA, p.Asn307LysfsTer27 in Heterozygous form; MAP4K4:c.1694G>A, p.Arg565Gln in Heterozygous form
GENE COMBINATION ENG; MAP4K4
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 108010
DISEASES Cerebral arteriovenous malformation
REFERENCES 30120215
SCORES
FAMmanual
1

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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