ACTN3 actinin alpha 3

Information
Symbol
ACTN3
Type
protein-coding
Description
actinin alpha 3
Entrez Gene ID
89
Genome
hg19
Position
chr11:66,313,866-66,330,797
Genome
hg38
Position
chr11:66,546,395-66,563,326
MIM
102574 OMIM
HGNC
HGNC:165 HGNC
Ensembl
ENSG00000248746 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 32
Likely benign 0 36
Conflicting classifications of pathogenicity 0 2
Conflicting classifications of pathogenicity; Affects 0 1
Uncertain significance 0 156
Ranking
ClinVar
0
0
0
224
1
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 :
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 ACTN3D
MIM 102574 OMIM
HGNC HGNC:165 HGNC
Ensembl ENSG00000248746 Ensembl
AllianceGenome HGNC:165
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000502692.5 hg38 chr11 66,546,395 66,563,326 16,932
ENST00000513398.2 hg38 chr11 66,546,903 66,563,334 16,432
ENST00000502692.5 hg19 chr11 66,313,866 66,330,797 16,932
ENST00000513398.2 hg19 chr11 66,314,374 66,330,805 16,432
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