ACTB actin beta

Information
Symbol
ACTB
Type
protein-coding
Description
actin beta
Entrez Gene ID
60
Genome
hg19
Position
chr7:5,566,040-5,570,232
Genome
hg38
Position
chr7:5,526,409-5,530,601
MIM
102630 OMIM
HGNC
HGNC:132 HGNC
Ensembl
ENSG00000075624 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 100
Likely pathogenic 0 152
Benign 6 102
Likely benign 0 478
Conflicting classifications of pathogenicity 0 38
not provided 0 2
Uncertain significance 0 232
Ranking
ClinVar
0
0
176
786
54
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 BKRNS
SYNONYM BNS
SYNONYM BRWS1
SYNONYM CSMH
SYNONYM DDS1
SYNONYM PS1TP5BP1
SYNONYM THC8
MIM 102630 OMIM
HGNC HGNC:132 HGNC
Ensembl ENSG00000075624 Ensembl
AllianceGenome HGNC:132
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000493945.6 hg38 chr7 5,527,536 5,530,602 3,067
ENST00000646664.1 hg38 chr7 5,527,148 5,530,601 3,454
ENST00000473257.3 hg38 chr7 5,527,147 5,530,604 3,458
ENST00000642480.2 hg38 chr7 5,527,147 5,529,949 2,803
ENST00000676319.1 hg38 chr7 5,527,147 5,530,604 3,458
ENST00000676397.1 hg38 chr7 5,527,147 5,530,581 3,435
ENST00000674681.1 hg38 chr7 5,526,409 5,530,601 4,193
ENST00000675515.1 hg38 chr7 5,527,152 5,563,902 36,751
ENST00000432588.6 hg38 chr7 5,527,798 5,530,627 2,830
ENST00000642480.2 hg19 chr7 5,566,778 5,569,580 2,803
ENST00000432588.6 hg19 chr7 5,567,429 5,570,258 2,830
ENST00000473257.3 hg19 chr7 5,566,778 5,570,235 3,458
ENST00000493945.6 hg19 chr7 5,567,167 5,570,233 3,067
ENST00000646664.1 hg19 chr7 5,566,779 5,570,232 3,454
ENST00000675515.1 hg19 chr7 5,566,783 5,603,533 36,751
ENST00000674681.1 hg19 chr7 5,566,040 5,570,232 4,193
ENST00000676319.1 hg19 chr7 5,566,778 5,570,235 3,458
ENST00000676397.1 hg19 chr7 5,566,778 5,570,212 3,435
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