HDAC6 histone deacetylase 6
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 28 |
Likely benign | 0 | 80 |
Conflicting classifications of pathogenicity | 0 | 8 |
not provided | 7 | 0 |
Uncertain significance | 0 | 70 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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24 |
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140 |
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10 |
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 | CPBHM |
SYNONYM | HD6 |
SYNONYM | JM21 |
SYNONYM | KDAC6 |
SYNONYM | PPP1R90 |
MIM | 300272 OMIM |
HGNC | HGNC:14064 HGNC |
Ensembl | ENSG00000094631 Ensembl |
AllianceGenome | HGNC:14064 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000697320.1 | hg38 | chrX | 48,802,067 | 48,824,966 | 22,900 |
ENST00000643374.2 | hg38 | chrX | 48,802,159 | 48,824,967 | 22,809 |
ENST00000423941.6 | hg38 | chrX | 48,801,377 | 48,824,966 | 23,590 |
ENST00000462730.5 | hg38 | chrX | 48,802,016 | 48,806,946 | 4,931 |
ENST00000697328.1 | hg38 | chrX | 48,802,178 | 48,824,966 | 22,789 |
ENST00000440653.2 | hg38 | chrX | 48,802,550 | 48,824,966 | 22,417 |
ENST00000376619.7 | hg38 | chrX | 48,802,016 | 48,824,976 | 22,961 |
ENST00000465269.6 | hg38 | chrX | 48,802,051 | 48,805,855 | 3,805 |
ENST00000441703.6 | hg38 | chrX | 48,802,186 | 48,805,745 | 3,560 |
ENST00000438518.6 | hg38 | chrX | 48,801,396 | 48,806,949 | 5,554 |
ENST00000697349.1 | hg38 | chrX | 48,802,055 | 48,824,966 | 22,912 |
ENST00000697348.1 | hg38 | chrX | 48,802,055 | 48,806,937 | 4,883 |
ENST00000443563.6 | hg38 | chrX | 48,802,153 | 48,824,966 | 22,814 |
ENST00000376610.7 | hg38 | chrX | 48,801,949 | 48,824,967 | 23,019 |
ENST00000642405.2 | hg38 | chrX | 48,802,693 | 48,824,966 | 22,274 |
ENST00000697368.1 | hg38 | chrX | 48,802,071 | 48,824,957 | 22,887 |
ENST00000644068.1 | hg38 | chrX | 48,802,168 | 48,824,976 | 22,809 |
ENST00000376643.7 | hg38 | chrX | 48,801,700 | 48,824,756 | 23,057 |
ENST00000489352.5 | hg38 | chrX | 48,802,207 | 48,805,846 | 3,640 |
ENST00000643934.1 | hg38 | chrX | 48,802,187 | 48,824,958 | 22,772 |
ENST00000477561.6 | hg38 | chrX | 48,802,110 | 48,824,612 | 22,503 |
ENST00000461608.2 | hg38 | chrX | 48,802,104 | 48,806,959 | 4,856 |
ENST00000334136.11 | hg38 | chrX | 48,802,067 | 48,824,976 | 22,910 |
ENST00000469223.6 | hg38 | chrX | 48,801,793 | 48,824,966 | 23,174 |
ENST00000476625.5 | hg38 | chrX | 48,802,082 | 48,806,233 | 4,152 |
ENST00000646703.2 | hg38 | chrX | 48,802,084 | 48,824,612 | 22,529 |
ENST00000423941.6 | hg19 | chrX | 48,659,784 | 48,683,376 | 23,593 |
ENST00000438518.6 | hg19 | chrX | 48,659,803 | 48,665,356 | 5,554 |
ENST00000334136.11 | hg19 | chrX | 48,660,474 | 48,683,386 | 22,913 |
ENST00000376610.7 | hg19 | chrX | 48,660,356 | 48,683,377 | 23,022 |
ENST00000376619.7 | hg19 | chrX | 48,660,423 | 48,683,386 | 22,964 |
ENST00000376643.7 | hg19 | chrX | 48,660,107 | 48,683,166 | 23,060 |
ENST00000469223.6 | hg19 | chrX | 48,660,200 | 48,683,376 | 23,177 |
ENST00000462730.5 | hg19 | chrX | 48,660,423 | 48,665,353 | 4,931 |
ENST00000461608.2 | hg19 | chrX | 48,660,511 | 48,665,366 | 4,856 |
ENST00000465269.6 | hg19 | chrX | 48,660,458 | 48,664,262 | 3,805 |
ENST00000476625.5 | hg19 | chrX | 48,660,489 | 48,664,640 | 4,152 |
ENST00000489352.5 | hg19 | chrX | 48,660,614 | 48,664,253 | 3,640 |
ENST00000646703.2 | hg19 | chrX | 48,660,491 | 48,683,022 | 22,532 |
ENST00000643934.1 | hg19 | chrX | 48,660,594 | 48,683,368 | 22,775 |
ENST00000441703.6 | hg19 | chrX | 48,660,593 | 48,664,152 | 3,560 |
ENST00000443563.6 | hg19 | chrX | 48,660,560 | 48,683,376 | 22,817 |
ENST00000477561.6 | hg19 | chrX | 48,660,517 | 48,683,022 | 22,506 |
ENST00000643374.2 | hg19 | chrX | 48,660,566 | 48,683,377 | 22,812 |
ENST00000644068.1 | hg19 | chrX | 48,660,575 | 48,683,386 | 22,812 |
ENST00000440653.2 | hg19 | chrX | 48,660,957 | 48,683,376 | 22,420 |
ENST00000642405.2 | hg19 | chrX | 48,661,100 | 48,683,376 | 22,277 |
ENST00000697320.1 | hg19 | chrX | 48,660,474 | 48,683,376 | 22,903 |
ENST00000697328.1 | hg19 | chrX | 48,660,585 | 48,683,376 | 22,792 |
ENST00000697348.1 | hg19 | chrX | 48,660,462 | 48,665,344 | 4,883 |
ENST00000697349.1 | hg19 | chrX | 48,660,462 | 48,683,376 | 22,915 |
ENST00000697368.1 | hg19 | chrX | 48,660,478 | 48,683,367 | 22,890 |
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