A2ML1 alpha-2-macroglobulin like 1

Information
Symbol
A2ML1
Type
protein-coding
Description
alpha-2-macroglobulin like 1
Entrez Gene ID
144568
Genome
hg19
Position
chr12:8,975,217-9,029,383
Genome
hg38
Position
chr12:8,822,621-8,876,787
MIM
610627 OMIM
HGNC
HGNC:23336 HGNC
Ensembl
ENSG00000166535 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 472
Likely benign 0 1,030
Conflicting classifications of pathogenicity 0 168
not provided 0 2
Uncertain significance 0 1,498
Ranking
ClinVar
0
0
746
2,132
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 :
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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 CPAMD9
SYNONYM OMS
SYNONYM p170
MIM 610627 OMIM
HGNC HGNC:23336 HGNC
Ensembl ENSG00000166535 Ensembl
AllianceGenome HGNC:23336
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000539547.5 hg38 chr12 8,845,004 8,876,456 31,453
ENST00000299698.12 hg38 chr12 8,822,621 8,876,787 54,167
ENST00000299698.12 hg19 chr12 8,975,217 9,029,383 54,167
ENST00000539547.5 hg19 chr12 8,997,600 9,029,052 31,453
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