ACTL6A actin like 6A

Information
Symbol
ACTL6A
Type
protein-coding
Description
actin like 6A
Entrez Gene ID
86
Genome
hg19
Position
chr3:179,280,714-179,306,195
Genome
hg38
Position
chr3:179,562,926-179,588,407
MIM
604958 OMIM
HGNC
HGNC:24124 HGNC
Ensembl
ENSG00000136518 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 1 0
Benign 0 6
Likely benign 0 10
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 44
Ranking
ClinVar
0
0
4
56
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
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 ACTL6
SYNONYM ARPN-BETA
SYNONYM Arp4
SYNONYM BAF53A
SYNONYM INO80K
SYNONYM SMARCN1
MIM 604958 OMIM
HGNC HGNC:24124 HGNC
Ensembl ENSG00000136518 Ensembl
AllianceGenome HGNC:24124
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392662.5 hg38 chr3 179,562,920 179,588,398 25,479
ENST00000429709.7 hg38 chr3 179,562,926 179,588,407 25,482
ENST00000450518.6 hg38 chr3 179,562,886 179,588,407 25,522
ENST00000450518.6 hg19 chr3 179,280,674 179,306,195 25,522
ENST00000392662.5 hg19 chr3 179,280,708 179,306,186 25,479
ENST00000429709.7 hg19 chr3 179,280,714 179,306,195 25,482
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