ATN1 atrophin 1

Information
Symbol
ATN1
Type
protein-coding
Description
atrophin 1
Entrez Gene ID
1822
Genome
hg19
Position
chr12:7,037,122-7,051,484
Genome
hg38
Position
chr12:6,927,959-6,942,321
MIM
607462 OMIM
HGNC
HGNC:3033 HGNC
Ensembl
ENSG00000111676 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 6
Benign 0 18
Likely benign 0 78
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 230
Ranking
ClinVar
0
0
40
284
10
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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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 B37
SYNONYM CHEDDA
SYNONYM D12S755E
SYNONYM DRPLA
SYNONYM HRS
SYNONYM NOD
MIM 607462 OMIM
HGNC HGNC:3033 HGNC
Ensembl ENSG00000111676 Ensembl
AllianceGenome HGNC:3033
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000396684.3 hg38 chr12 6,927,959 6,942,321 14,363
ENST00000356654.8 hg38 chr12 6,924,463 6,942,321 17,859
ENST00000356654.8 hg19 chr12 7,033,626 7,051,484 17,859
ENST00000396684.3 hg19 chr12 7,037,122 7,051,484 14,363
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