DNASE1 deoxyribonuclease 1

Information
Symbol
DNASE1
Type
protein-coding
Description
deoxyribonuclease 1
Entrez Gene ID
1773
Genome
hg19
Position
chr16:3,692,939-3,715,473
Genome
hg38
Position
chr16:3,642,938-3,665,472
MIM
125505 OMIM
HGNC
HGNC:2956 HGNC
Ensembl
ENSG00000213918 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 2
Likely pathogenic 0 2
Benign 0 52
Likely benign 0 90
Conflicting classifications of pathogenicity 0 6
risk factor 0 2
Uncertain significance 0 148
Ranking
ClinVar
0
0
42
238
6
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 DNL1
SYNONYM DRNI
MIM 125505 OMIM
HGNC HGNC:2956 HGNC
Ensembl ENSG00000213918 Ensembl
AllianceGenome HGNC:2956
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000407479.5 hg38 chr16 3,642,938 3,665,472 22,535
ENST00000246949.10 hg38 chr16 3,654,691 3,658,095 3,405
ENST00000407479.5 hg19 chr16 3,692,939 3,715,473 22,535
ENST00000246949.10 hg19 chr16 3,704,692 3,708,096 3,405
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