Details for Combination OLI1135

VARIANTS PMS2:c.2148dupC, in Heterozygous form; POLE:c.830A>G, p.Glu277Gly in Heterozygous form
GENE COMBINATION PMS2; POLE
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 120435; 614350; 614385; 613244; 614331; 614337; 609310
DISEASES Lynch syndrome
REFERENCES 34967012
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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