HSPH1 heat shock protein family H (Hsp110) member 1

Information
Symbol
HSPH1
Type
protein-coding
Description
heat shock protein family H (Hsp110) member 1
Entrez Gene ID
10808
Genome
hg19
Position
chr13:31,710,762-31,736,525
Genome
hg38
Position
chr13:31,136,625-31,162,388
MIM
610703 OMIM
HGNC
HGNC:16969 HGNC
Ensembl
ENSG00000120694 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 10
Uncertain significance 1 58
Ranking
ClinVar
0
0
2
72
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 :
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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 HSP105
SYNONYM HSP105A
SYNONYM HSP105B
SYNONYM NY-CO-25
MIM 610703 OMIM
HGNC HGNC:16969 HGNC
Ensembl ENSG00000120694 Ensembl
AllianceGenome HGNC:16969
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000630972.2 hg38 chr13 31,136,625 31,162,388 25,764
ENST00000445273.6 hg38 chr13 31,134,974 31,162,388 27,415
ENST00000380405.7 hg38 chr13 31,136,628 31,161,927 25,300
ENST00000320027.10 hg38 chr13 31,134,973 31,161,904 26,932
ENST00000320027.10 hg19 chr13 31,709,110 31,736,041 26,932
ENST00000445273.6 hg19 chr13 31,709,111 31,736,525 27,415
ENST00000630972.2 hg19 chr13 31,710,762 31,736,525 25,764
ENST00000380405.7 hg19 chr13 31,710,765 31,736,064 25,300
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