ACTG1 actin gamma 1

Information
Symbol
ACTG1
Type
protein-coding
Description
actin gamma 1
Entrez Gene ID
71
Genome
hg19
Position
chr17:79,476,439-79,481,655
Genome
hg38
Position
chr17:81,509,413-81,514,629
MIM
102560 OMIM
HGNC
HGNC:144 HGNC
Ensembl
ENSG00000184009 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 14 42
Likely pathogenic 0 74
Benign 8 190
Likely benign 0 602
Conflicting classifications of pathogenicity 0 54
not provided 0 4
Uncertain significance 0 224
Ranking
ClinVar
0
0
304
730
14
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 ACT
SYNONYM ACTG
SYNONYM DFNA20
SYNONYM DFNA26
SYNONYM HEL-176
MIM 102560 OMIM
HGNC HGNC:144 HGNC
Ensembl ENSG00000184009 Ensembl
AllianceGenome HGNC:144
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000573283.7 hg38 chr17 81,509,971 81,512,799 2,829
ENST00000681052.1 hg38 chr17 81,509,413 81,514,629 5,217
ENST00000575994.6 hg38 chr17 81,510,690 81,523,847 13,158
ENST00000575659.6 hg38 chr17 81,510,690 81,514,640 3,951
ENST00000575842.5 hg38 chr17 81,509,989 81,512,781 2,793
ENST00000644774.2 hg38 chr17 81,510,690 81,512,763 2,074
ENST00000575087.5 hg38 chr17 81,510,008 81,512,790 2,783
ENST00000679480.1 hg38 chr17 81,509,976 81,512,671 2,696
ENST00000571721.6 hg38 chr17 81,510,690 81,512,778 2,089
ENST00000615544.5 hg38 chr17 81,509,976 81,513,719 3,744
ENST00000571691.6 hg38 chr17 81,510,690 81,512,799 2,110
ENST00000570382.2 hg38 chr17 81,509,976 81,512,818 2,843
ENST00000570382.2 hg19 chr17 79,477,002 79,479,844 2,843
ENST00000571691.6 hg19 chr17 79,477,716 79,479,825 2,110
ENST00000571721.6 hg19 chr17 79,477,716 79,479,804 2,089
ENST00000573283.7 hg19 chr17 79,476,997 79,479,825 2,829
ENST00000575087.5 hg19 chr17 79,477,034 79,479,816 2,783
ENST00000575659.6 hg19 chr17 79,477,716 79,481,666 3,951
ENST00000575842.5 hg19 chr17 79,477,015 79,479,807 2,793
ENST00000575994.6 hg19 chr17 79,477,716 79,490,873 13,158
ENST00000615544.5 hg19 chr17 79,477,002 79,480,745 3,744
ENST00000644774.2 hg19 chr17 79,477,716 79,479,789 2,074
ENST00000679480.1 hg19 chr17 79,477,002 79,479,697 2,696
ENST00000681052.1 hg19 chr17 79,476,439 79,481,655 5,217
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