HEXD hexosaminidase D

Information
Symbol
HEXD
Type
protein-coding
Description
hexosaminidase D
Entrez Gene ID
284004
Genome
hg19
Position
chr17:80,376,194-80,400,521
Genome
hg38
Position
chr17:82,418,318-82,442,645
MIM
616864 OMIM
HGNC
HGNC:26307 HGNC
Ensembl
ENSG00000169660 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 30
Uncertain significance 0 76
Ranking
ClinVar
0
0
0
112
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
[No Data.]
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 HEXDC
MIM 616864 OMIM
HGNC HGNC:26307 HGNC
Ensembl ENSG00000169660 Ensembl
AllianceGenome HGNC:26307
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000577944.5 hg38 chr17 82,418,697 82,442,641 23,945
ENST00000327949.15 hg38 chr17 82,418,347 82,442,645 24,299
ENST00000644009.1 hg38 chr17 82,419,800 82,442,384 22,585
ENST00000337014.10 hg38 chr17 82,418,318 82,442,645 24,328
ENST00000327949.15 hg19 chr17 80,376,223 80,400,521 24,299
ENST00000337014.10 hg19 chr17 80,376,194 80,400,521 24,328
ENST00000577944.5 hg19 chr17 80,376,573 80,400,517 23,945
ENST00000644009.1 hg19 chr17 80,377,676 80,400,260 22,585
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