ACTMAP actin maturation protease

Information
Symbol
ACTMAP
Type
protein-coding
Description
actin maturation protease
Entrez Gene ID
284325
Genome
hg19
Position
chr19:41,246,766-41,256,382
Genome
hg38
Position
chr19:40,740,861-40,750,477
MIM
620093 OMIM
HGNC
HGNC:24758 HGNC
Ensembl
ENSG00000188493 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
12
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
[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 C19orf54
MIM 620093 OMIM
HGNC HGNC:24758 HGNC
Ensembl ENSG00000188493 Ensembl
AllianceGenome HGNC:24758
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000470681.5 hg38 chr19 40,740,856 40,750,492 9,637
ENST00000378313.7 hg38 chr19 40,740,861 40,750,477 9,617
ENST00000598485.6 hg38 chr19 40,740,862 40,750,302 9,441
ENST00000470681.5 hg19 chr19 41,246,761 41,256,397 9,637
ENST00000378313.7 hg19 chr19 41,246,766 41,256,382 9,617
ENST00000598485.6 hg19 chr19 41,246,767 41,256,207 9,441
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