Details for Combination OLI750

VARIANTS XRCC1:c.1738C>T, p.Arg580Trp in Heterozygous form; COBL:c.1538C>T, p.Ser513Phe in Heterozygous form
GENE COMBINATION COBL; XRCC1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Isolated anencephaly
REFERENCES 29205322
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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