ACTBL2 actin beta like 2

Information
Symbol
ACTBL2
Type
protein-coding
Description
actin beta like 2
Entrez Gene ID
345651
Genome
hg19
Position
chr5:56,775,845-56,778,638
Genome
hg38
Position
chr5:57,480,018-57,482,811
MIM
614835 OMIM
HGNC
HGNC:17780 HGNC
Ensembl
ENSG00000169067 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 50
Ranking
ClinVar
0
0
0
54
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 ACT
MIM 614835 OMIM
HGNC HGNC:17780 HGNC
Ensembl ENSG00000169067 Ensembl
AllianceGenome HGNC:17780
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000423391.3 hg38 chr5 57,480,018 57,482,811 2,794
ENST00000423391.3 hg19 chr5 56,775,845 56,778,638 2,794
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