Details for Combination OLI284

VARIANTS APC:c.3468_3470delAGA, p.Glu1157del in Heterozygous form; OGG1:c.923G>A, p.Gly308Glu in Heterozygous form; EXO1:c.2212-1G>C, in Heterozygous form; POLQ:c.6743A>G, p.Asn2248Ser in Heterozygous form
GENE COMBINATION APC; EXO1; OGG1; POLQ
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 175100
DISEASES Familial adenomatous polyposis
REFERENCES 29367705
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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