ATG13 autophagy related 13
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Uncertain significance | 0 | 52 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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54 |
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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
[No Data.]
Locus Zoom
Variants
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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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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 | KIAA0652 |
SYNONYM | PARATARG8 |
MIM | 615088 OMIM |
HGNC | HGNC:29091 HGNC |
Ensembl | ENSG00000175224 Ensembl |
AllianceGenome | HGNC:29091 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000683050.1 | hg38 | chr11 | 46,617,553 | 46,674,518 | 56,966 |
ENST00000529655.5 | hg38 | chr11 | 46,617,541 | 46,673,041 | 55,501 |
ENST00000359513.8 | hg38 | chr11 | 46,617,596 | 46,674,818 | 57,223 |
ENST00000528494.5 | hg38 | chr11 | 46,617,600 | 46,672,726 | 55,127 |
ENST00000526508.5 | hg38 | chr11 | 46,617,563 | 46,674,520 | 56,958 |
ENST00000524625.5 | hg38 | chr11 | 46,617,577 | 46,674,520 | 56,944 |
ENST00000530500.5 | hg38 | chr11 | 46,617,563 | 46,672,660 | 55,098 |
ENST00000529655.5 | hg19 | chr11 | 46,639,091 | 46,694,591 | 55,501 |
ENST00000530500.5 | hg19 | chr11 | 46,639,113 | 46,694,210 | 55,098 |
ENST00000524625.5 | hg19 | chr11 | 46,639,127 | 46,696,070 | 56,944 |
ENST00000526508.5 | hg19 | chr11 | 46,639,113 | 46,696,070 | 56,958 |
ENST00000359513.8 | hg19 | chr11 | 46,639,146 | 46,696,368 | 57,223 |
ENST00000528494.5 | hg19 | chr11 | 46,639,150 | 46,694,276 | 55,127 |
ENST00000683050.1 | hg19 | chr11 | 46,639,103 | 46,696,068 | 56,966 |
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