UNC45A unc-45 myosin chaperone A

Information
Symbol
UNC45A
Type
protein-coding
Description
unc-45 myosin chaperone A
Entrez Gene ID
55898
Genome
hg19
Position
chr15:91,478,515-91,497,323
Genome
hg38
Position
chr15:90,935,285-90,954,093
MIM
611219 OMIM
HGNC
HGNC:30594 HGNC
Ensembl
ENSG00000140553 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 4
Benign 0 56
Likely benign 0 506
Conflicting classifications of pathogenicity 0 10
no classification for the single variant 0 4
Uncertain significance 0 568
Ranking
ClinVar
0
0
118
1,006
18
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 :
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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 GC-UNC45
SYNONYM GCUNC-45
SYNONYM GCUNC45
SYNONYM IRO039700
SYNONYM OOHE
SYNONYM SMAP-1
SYNONYM SMAP1
SYNONYM UNC-45A
MIM 611219 OMIM
HGNC HGNC:30594 HGNC
Ensembl ENSG00000140553 Ensembl
AllianceGenome HGNC:30594
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000418476.2 hg38 chr15 90,935,285 90,954,093 18,809
ENST00000394275.7 hg38 chr15 90,930,180 90,954,092 23,913
ENST00000639885.1 hg38 chr15 90,934,041 90,953,716 19,676
ENST00000394275.7 hg19 chr15 91,473,410 91,497,322 23,913
ENST00000418476.2 hg19 chr15 91,478,515 91,497,323 18,809
ENST00000639885.1 hg19 chr15 91,477,271 91,496,946 19,676
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