POLD1 DNA polymerase delta 1, catalytic subunit

Information
Symbol
POLD1
Type
protein-coding
Description
DNA polymerase delta 1, catalytic subunit
Entrez Gene ID
5424
Genome
hg19
Position
chr19:50,887,604-50,921,271
Genome
hg38
Position
chr19:50,384,347-50,418,014
MIM
174761 OMIM
HGNC
HGNC:9175 HGNC
Ensembl
ENSG00000062822 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 10
Likely pathogenic 3 6
Benign 0 362
Likely benign 7 3,946
Conflicting classifications of pathogenicity 0 396
no classification for the single variant 0 2
not provided 16 4
Uncertain significance 32 5,108
Ranking
ClinVar
0
0
3,532
5,672
18
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CDC2
SYNONYM CRCS10
SYNONYM IMD120
SYNONYM MDPL
SYNONYM POLD
MIM 174761 OMIM
HGNC HGNC:9175 HGNC
Ensembl ENSG00000062822 Ensembl
AllianceGenome HGNC:9175
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000601098.6 hg38 chr19 50,384,342 50,417,971 33,630
ENST00000599857.7 hg38 chr19 50,384,323 50,418,018 33,696
ENST00000644560.2 hg38 chr19 50,398,852 50,417,987 19,136
ENST00000687454.1 hg38 chr19 50,387,742 50,417,997 30,256
ENST00000593887.2 hg38 chr19 50,384,373 50,417,947 33,575
ENST00000595904.6 hg38 chr19 50,384,347 50,418,014 33,668
ENST00000440232.7 hg38 chr19 50,384,347 50,418,014 33,668
ENST00000613923.6 hg38 chr19 50,384,334 50,417,975 33,642
ENST00000599857.7 hg19 chr19 50,887,580 50,921,275 33,696
ENST00000613923.6 hg19 chr19 50,887,591 50,921,232 33,642
ENST00000601098.6 hg19 chr19 50,887,599 50,921,228 33,630
ENST00000440232.7 hg19 chr19 50,887,604 50,921,271 33,668
ENST00000595904.6 hg19 chr19 50,887,604 50,921,271 33,668
ENST00000593887.2 hg19 chr19 50,887,630 50,921,204 33,575
ENST00000687454.1 hg19 chr19 50,890,999 50,921,254 30,256
ENST00000644560.2 hg19 chr19 50,902,109 50,921,244 19,136
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