ATXN10 ataxin 10
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 26 |
Likely benign | 0 | 14 |
not provided | 1 | 0 |
Uncertain significance | 0 | 32 |
Ranking
ClinVar | |
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0 |
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0 |
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4 |
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62 |
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6 |
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 |
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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 |
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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 | ATX10 |
SYNONYM | E46L |
SYNONYM | HUMEEP |
SYNONYM | SCA10 |
MIM | 611150 OMIM |
HGNC | HGNC:10549 HGNC |
Ensembl | ENSG00000130638 Ensembl |
AllianceGenome | HGNC:10549 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000402380.3 | hg38 | chr22 | 45,793,596 | 45,843,797 | 50,202 |
ENST00000381061.8 | hg38 | chr22 | 45,671,798 | 45,845,304 | 173,507 |
ENST00000252934.10 | hg38 | chr22 | 45,671,834 | 45,845,307 | 173,474 |
ENST00000381061.8 | hg19 | chr22 | 46,067,678 | 46,241,184 | 173,507 |
ENST00000252934.10 | hg19 | chr22 | 46,067,714 | 46,241,187 | 173,474 |
ENST00000402380.3 | hg19 | chr22 | 46,189,476 | 46,239,677 | 50,202 |
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