Details for Combination OLI1457

VARIANTS POLD1:c.946G>A, p.Asp316Asn in Heterozygous form; PMS2:c.2007-786_2174+493del1447, p.Ser669_Ala725delinsArg in Heterozygous form
GENE COMBINATION PMS2; POLD1
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Colorectal cancer
REFERENCES 36291559
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
101

FUN
manualmeta
12

FINAL
manualmeta
12


Found any issues with the data on this page? Report this entry.