HSPB3 heat shock protein family B (small) member 3

Information
Symbol
HSPB3
Type
protein-coding
Description
heat shock protein family B (small) member 3
Entrez Gene ID
8988
Genome
hg19
Position
chr5:53,751,529-53,752,207
Genome
hg38
Position
chr5:54,455,699-54,456,377
MIM
604624 OMIM
HGNC
HGNC:5248 HGNC
Ensembl
ENSG00000169271 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 2 10
Likely benign 0 34
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 70
Ranking
ClinVar
0
0
26
84
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 DHMN2C
SYNONYM HMN2C
SYNONYM HMND4
SYNONYM HSPL27
MIM 604624 OMIM
HGNC HGNC:5248 HGNC
Ensembl ENSG00000169271 Ensembl
AllianceGenome HGNC:5248
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000302005.3 hg38 chr5 54,455,699 54,456,377 679
ENST00000302005.3 hg19 chr5 53,751,529 53,752,207 679
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