Details for POLE:c.830A>G, p.Glu277Gly

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
133253211132676625
VARIANT EFFECT None
ANNOTATION FLAG None
GENE POLE
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.830A>G
PROTEIN CHANGE p.Glu277Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.196659Disease causing
DBSNP ID NA
1 combination linked to POLE:c.830A>G, p.Glu277Gly OLI1135
1 disease linked to POLE:c.830A>G, p.Glu277Gly Lynch syndrome
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