ASTL astacin like metalloendopeptidase

Information
Symbol
ASTL
Type
protein-coding
Description
astacin like metalloendopeptidase
Entrez Gene ID
431705
Genome
hg19
Position
chr2:96,788,557-96,804,241
Genome
hg38
Position
chr2:96,122,818-96,138,502
MIM
608860 OMIM
HGNC
HGNC:31704 HGNC
Ensembl
ENSG00000188886 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 6
Likely benign 0 12
not provided 2 0
Uncertain significance 0 50
Ranking
ClinVar
0
0
0
68
2
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 OOMD11
SYNONYM OZEMA11
SYNONYM SAS1B
MIM 608860 OMIM
HGNC HGNC:31704 HGNC
Ensembl ENSG00000188886 Ensembl
AllianceGenome HGNC:31704
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000342380.3 hg38 chr2 96,122,818 96,138,502 15,685
ENST00000342380.3 hg19 chr2 96,788,557 96,804,241 15,685
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