HDAC8 histone deacetylase 8
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 6 | 78 |
Likely pathogenic | 2 | 80 |
Benign | 0 | 86 |
Likely benign | 0 | 194 |
Conflicting classifications of pathogenicity | 0 | 10 |
not provided | 8 | 0 |
Uncertain significance | 0 | 150 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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78 |
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462 |
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22 |
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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 |
Type | ID |
---|---|
SYNONYM | CDA07 |
SYNONYM | CDLS5 |
SYNONYM | HD8 |
SYNONYM | HDACL1 |
SYNONYM | KDAC8 |
SYNONYM | MRXS6 |
SYNONYM | RPD3 |
SYNONYM | WTS |
MIM | 300269 OMIM |
HGNC | HGNC:13315 HGNC |
Ensembl | ENSG00000147099 Ensembl |
AllianceGenome | HGNC:13315 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000650636.1 | hg38 | chrX | 72,562,220 | 72,572,816 | 10,597 |
ENST00000648036.1 | hg38 | chrX | 72,473,431 | 72,572,810 | 99,380 |
ENST00000373583.6 | hg38 | chrX | 72,329,516 | 72,572,877 | 243,362 |
ENST00000647594.1 | hg38 | chrX | 72,329,568 | 72,572,865 | 243,298 |
ENST00000373589.9 | hg38 | chrX | 72,329,560 | 72,573,101 | 243,542 |
ENST00000648962.1 | hg38 | chrX | 72,473,416 | 72,572,821 | 99,406 |
ENST00000647980.1 | hg38 | chrX | 72,329,568 | 72,572,847 | 243,280 |
ENST00000649752.1 | hg38 | chrX | 72,457,621 | 72,572,843 | 115,223 |
ENST00000647654.1 | hg38 | chrX | 72,329,559 | 72,572,843 | 243,285 |
ENST00000647859.1 | hg38 | chrX | 72,329,568 | 72,572,843 | 243,276 |
ENST00000648452.1 | hg38 | chrX | 72,329,538 | 72,572,865 | 243,328 |
ENST00000650126.1 | hg38 | chrX | 72,473,431 | 72,572,847 | 99,417 |
ENST00000373554.6 | hg38 | chrX | 72,567,582 | 72,572,853 | 5,272 |
ENST00000373556.8 | hg38 | chrX | 72,567,582 | 72,572,856 | 5,275 |
ENST00000373559.8 | hg38 | chrX | 72,474,535 | 72,572,812 | 98,278 |
ENST00000439122.7 | hg38 | chrX | 72,473,416 | 72,573,083 | 99,668 |
ENST00000648139.1 | hg38 | chrX | 72,351,379 | 72,572,816 | 221,438 |
ENST00000647886.1 | hg38 | chrX | 72,329,557 | 72,572,859 | 243,303 |
ENST00000648870.1 | hg38 | chrX | 72,457,406 | 72,572,856 | 115,451 |
ENST00000373571.6 | hg38 | chrX | 72,466,696 | 72,572,843 | 106,148 |
ENST00000373573.9 | hg38 | chrX | 72,329,516 | 72,572,843 | 243,328 |
ENST00000650604.1 | hg38 | chrX | 72,329,568 | 72,573,081 | 243,514 |
ENST00000648298.1 | hg38 | chrX | 72,457,402 | 72,572,843 | 115,442 |
ENST00000415409.6 | hg38 | chrX | 72,385,109 | 72,572,843 | 187,735 |
ENST00000373560.7 | hg38 | chrX | 72,474,407 | 72,572,830 | 98,424 |
ENST00000373568.7 | hg38 | chrX | 72,351,300 | 72,572,842 | 221,543 |
ENST00000373573.9 | hg19 | chrX | 71,549,366 | 71,792,693 | 243,328 |
ENST00000373583.6 | hg19 | chrX | 71,549,366 | 71,792,727 | 243,362 |
ENST00000373568.7 | hg19 | chrX | 71,571,150 | 71,792,692 | 221,543 |
ENST00000373571.6 | hg19 | chrX | 71,686,546 | 71,792,693 | 106,148 |
ENST00000373560.7 | hg19 | chrX | 71,694,257 | 71,792,680 | 98,424 |
ENST00000373559.8 | hg19 | chrX | 71,694,385 | 71,792,662 | 98,278 |
ENST00000373554.6 | hg19 | chrX | 71,787,432 | 71,792,703 | 5,272 |
ENST00000415409.6 | hg19 | chrX | 71,604,959 | 71,792,693 | 187,735 |
ENST00000373556.8 | hg19 | chrX | 71,787,432 | 71,792,706 | 5,275 |
ENST00000373589.9 | hg19 | chrX | 71,549,410 | 71,792,951 | 243,542 |
ENST00000648139.1 | hg19 | chrX | 71,571,229 | 71,792,666 | 221,438 |
ENST00000439122.7 | hg19 | chrX | 71,693,266 | 71,792,933 | 99,668 |
ENST00000647886.1 | hg19 | chrX | 71,549,407 | 71,792,709 | 243,303 |
ENST00000648036.1 | hg19 | chrX | 71,693,281 | 71,792,660 | 99,380 |
ENST00000648452.1 | hg19 | chrX | 71,549,388 | 71,792,715 | 243,328 |
ENST00000647654.1 | hg19 | chrX | 71,549,409 | 71,792,693 | 243,285 |
ENST00000647859.1 | hg19 | chrX | 71,549,418 | 71,792,693 | 243,276 |
ENST00000647980.1 | hg19 | chrX | 71,549,418 | 71,792,697 | 243,280 |
ENST00000647594.1 | hg19 | chrX | 71,549,418 | 71,792,715 | 243,298 |
ENST00000648962.1 | hg19 | chrX | 71,693,266 | 71,792,671 | 99,406 |
ENST00000648298.1 | hg19 | chrX | 71,677,252 | 71,792,693 | 115,442 |
ENST00000648870.1 | hg19 | chrX | 71,677,256 | 71,792,706 | 115,451 |
ENST00000649752.1 | hg19 | chrX | 71,677,471 | 71,792,693 | 115,223 |
ENST00000650126.1 | hg19 | chrX | 71,693,281 | 71,792,697 | 99,417 |
ENST00000650604.1 | hg19 | chrX | 71,549,418 | 71,792,931 | 243,514 |
ENST00000650636.1 | hg19 | chrX | 71,782,070 | 71,792,666 | 10,597 |
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