AP2S1 adaptor related protein complex 2 subunit sigma 1

Information
Symbol
AP2S1
Type
protein-coding
Description
adaptor related protein complex 2 subunit sigma 1
Entrez Gene ID
1175
Genome
hg19
Position
chr19:47,341,415-47,353,573
Genome
hg38
Position
chr19:46,838,158-46,850,316
MIM
602242 OMIM
HGNC
HGNC:565 HGNC
Ensembl
ENSG00000042753 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 6
Benign 0 26
Likely benign 0 138
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 52
Ranking
ClinVar
0
0
32
184
0
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 AP17
SYNONYM CLAPS2
SYNONYM FBH3
SYNONYM FBHOk
SYNONYM HHC3
MIM 602242 OMIM
HGNC HGNC:565 HGNC
Ensembl ENSG00000042753 Ensembl
AllianceGenome HGNC:565
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000599990.5 hg38 chr19 46,838,158 46,850,769 12,612
ENST00000352203.8 hg38 chr19 46,838,136 46,850,777 12,642
ENST00000601498.5 hg38 chr19 46,838,158 46,850,316 12,159
ENST00000597020.5 hg38 chr19 46,838,172 46,846,148 7,977
ENST00000593442.5 hg38 chr19 46,838,158 46,850,834 12,677
ENST00000263270.11 hg38 chr19 46,838,167 46,850,846 12,680
ENST00000601649.1 hg38 chr19 46,838,447 46,850,766 12,320
ENST00000352203.8 hg19 chr19 47,341,393 47,354,034 12,642
ENST00000601498.5 hg19 chr19 47,341,415 47,353,573 12,159
ENST00000599990.5 hg19 chr19 47,341,415 47,354,026 12,612
ENST00000593442.5 hg19 chr19 47,341,415 47,354,091 12,677
ENST00000263270.11 hg19 chr19 47,341,424 47,354,103 12,680
ENST00000597020.5 hg19 chr19 47,341,429 47,349,405 7,977
ENST00000601649.1 hg19 chr19 47,341,704 47,354,023 12,320
Genome browser