ATAT1 alpha tubulin acetyltransferase 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| not provided | 11 | 0 |
| Uncertain significance | 0 | 22 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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20 |
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2 |
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
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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 | |||||||||||
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
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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 | C6orf134 |
| SYNONYM | MEC17 |
| SYNONYM | Nbla00487 |
| SYNONYM | TAT |
| SYNONYM | alpha-TAT |
| SYNONYM | alpha-TAT1 |
| MIM | 615556 OMIM |
| HGNC | HGNC:21186 HGNC |
| Ensembl | ENSG00000137343 Ensembl |
| AllianceGenome | HGNC:21186 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000376485.9 | hg38 | chr6 | 30,626,874 | 30,646,821 | 19,948 |
| ENST00000376483.8 | hg38 | chr6 | 30,626,876 | 30,644,679 | 17,804 |
| ENST00000330083.6 | hg38 | chr6 | 30,626,874 | 30,646,821 | 19,948 |
| ENST00000318999.11 | hg38 | chr6 | 30,626,842 | 30,644,679 | 17,838 |
| ENST00000319027.9 | hg38 | chr6 | 30,626,875 | 30,644,679 | 17,805 |
| ENST00000329992.12 | hg38 | chr6 | 30,626,886 | 30,644,679 | 17,794 |
| ENST00000318999.11 | hg19 | chr6 | 30,594,619 | 30,612,456 | 17,838 |
| ENST00000330083.6 | hg19 | chr6 | 30,594,651 | 30,614,598 | 19,948 |
| ENST00000376485.9 | hg19 | chr6 | 30,594,651 | 30,614,598 | 19,948 |
| ENST00000319027.9 | hg19 | chr6 | 30,594,652 | 30,612,456 | 17,805 |
| ENST00000376483.8 | hg19 | chr6 | 30,594,653 | 30,612,456 | 17,804 |
| ENST00000329992.12 | hg19 | chr6 | 30,594,663 | 30,612,456 | 17,794 |
| Key | Value |
|---|---|
| strand | + |
| start | 30,594,618 |
| Gene Symbol | ATAT1 |
| Entrez GeneId | 79,969 |
| Chr Band | 6p21.33 |
| end | 30,614,599 |
| chr | chr6 |
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