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
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Variants
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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 |
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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 |
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MGeND data only
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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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 |
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ID | Genome | Chromosome | Start | End | Length |
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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 |
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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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