ARCN1 archain 1

Information
Symbol
ARCN1
Type
protein-coding
Description
archain 1
Entrez Gene ID
372
Genome
hg19
Position
chr11:118,443,124-118,473,748
Genome
hg38
Position
chr11:118,572,409-118,603,033
MIM
600820 OMIM
HGNC
HGNC:649 HGNC
Ensembl
ENSG00000095139 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 36
Likely pathogenic 0 8
Benign 0 42
Likely benign 0 136
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 194
Ranking
ClinVar
0
0
38
358
12
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 :
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 COPD
SYNONYM SRMMD
SYNONYM SSMG
MIM 600820 OMIM
HGNC HGNC:649 HGNC
Ensembl ENSG00000095139 Ensembl
AllianceGenome HGNC:649
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392859.7 hg38 chr11 118,572,390 118,600,993 28,604
ENST00000264028.5 hg38 chr11 118,572,409 118,603,033 30,625
ENST00000534182.2 hg38 chr11 118,572,436 118,603,033 30,598
ENST00000359415.8 hg38 chr11 118,572,424 118,602,928 30,505
ENST00000392859.7 hg19 chr11 118,443,105 118,471,708 28,604
ENST00000264028.5 hg19 chr11 118,443,124 118,473,748 30,625
ENST00000359415.8 hg19 chr11 118,443,139 118,473,643 30,505
ENST00000534182.2 hg19 chr11 118,443,151 118,473,748 30,598
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