Details for POLD1:c.946G>A, p.Asp316Asn

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
50905974None
VARIANT EFFECT None
ANNOTATION FLAG None
GENE POLD1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_002691.4
CDNA CHANGE c.946G>A
PROTEIN CHANGE p.Asp316Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to POLD1:c.946G>A, p.Asp316Asn OLI1457
1 disease linked to POLD1:c.946G>A, p.Asp316Asn Colorectal cancer

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