ACYP1 acylphosphatase 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 2 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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2 |
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0 |
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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| 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 | ||||||||||||||
Search Word
| Target data | : |
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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ACYPE |
| MIM | 600875 OMIM |
| HGNC | HGNC:179 HGNC |
| Ensembl | ENSG00000119640 Ensembl |
| AllianceGenome | HGNC:179 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000555463.1 | hg38 | chr14 | 75,053,237 | 75,069,483 | 16,247 |
| ENST00000238618.8 | hg38 | chr14 | 75,053,243 | 75,064,024 | 10,782 |
| ENST00000555135.1 | hg38 | chr14 | 75,059,848 | 75,064,007 | 4,160 |
| ENST00000555694.5 | hg38 | chr14 | 75,053,243 | 75,064,027 | 10,785 |
| ENST00000553302.1 | hg38 | chr14 | 75,063,023 | 75,064,020 | 998 |
| ENST00000357971.7 | hg38 | chr14 | 75,053,243 | 75,064,015 | 10,773 |
| ENST00000555463.1 | hg19 | chr14 | 75,519,940 | 75,536,186 | 16,247 |
| ENST00000357971.7 | hg19 | chr14 | 75,519,946 | 75,530,718 | 10,773 |
| ENST00000238618.8 | hg19 | chr14 | 75,519,946 | 75,530,727 | 10,782 |
| ENST00000555694.5 | hg19 | chr14 | 75,519,946 | 75,530,730 | 10,785 |
| ENST00000555135.1 | hg19 | chr14 | 75,526,551 | 75,530,710 | 4,160 |
| ENST00000553302.1 | hg19 | chr14 | 75,529,726 | 75,530,723 | 998 |
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