ACTA1 actin alpha 1, skeletal muscle

Information
Symbol
ACTA1
Type
protein-coding
Description
actin alpha 1, skeletal muscle
Entrez Gene ID
58
Genome
hg19
Position
chr1:229,566,992-229,569,841
Genome
hg38
Position
chr1:229,431,245-229,434,094
MIM
102610 OMIM
HGNC
HGNC:129 HGNC
Ensembl
ENSG00000143632 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 15 236
Likely pathogenic 15 194
Benign 0 46
Likely benign 0 236
Conflicting classifications of pathogenicity 0 68
no classification for the single variant 0 4
not provided 0 2
Uncertain significance 0 302
Ranking
ClinVar
0
0
170
752
26
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 ACTA
SYNONYM ASMA
SYNONYM CFTD
SYNONYM CFTD1
SYNONYM CFTDM
SYNONYM CMYP2A
SYNONYM CMYP2B
SYNONYM CMYP2C
SYNONYM MPFD
SYNONYM NEM1
SYNONYM NEM2
SYNONYM NEM3
SYNONYM SHPM
MIM 102610 OMIM
HGNC HGNC:129 HGNC
Ensembl ENSG00000143632 Ensembl
AllianceGenome HGNC:129
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000684723.1 hg38 chr1 229,430,365 229,434,100 3,736
ENST00000366683.4 hg38 chr1 229,431,245 229,434,104 2,860
ENST00000366684.7 hg38 chr1 229,431,245 229,434,094 2,850
ENST00000684723.1 hg19 chr1 229,566,112 229,569,847 3,736
ENST00000366684.7 hg19 chr1 229,566,992 229,569,841 2,850
ENST00000366683.4 hg19 chr1 229,566,992 229,569,851 2,860
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