NPEPPS aminopeptidase puromycin sensitive
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 10 |
| Likely benign | 0 | 10 |
| Uncertain significance | 0 | 48 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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68 |
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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
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | AAP-S |
| SYNONYM | MP100 |
| SYNONYM | PSA |
| MIM | 606793 OMIM |
| HGNC | HGNC:7900 HGNC |
| Ensembl | ENSG00000141279 Ensembl |
| AllianceGenome | HGNC:7900 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000322157.9 | hg38 | chr17 | 47,531,108 | 47,623,276 | 92,169 |
| ENST00000530173.6 | hg38 | chr17 | 47,522,957 | 47,623,276 | 100,320 |
| ENST00000677370.1 | hg38 | chr17 | 47,531,269 | 47,623,259 | 91,991 |
| ENST00000532729.6 | hg38 | chr17 | 47,531,108 | 47,592,675 | 61,568 |
| ENST00000677120.1 | hg38 | chr17 | 47,531,222 | 47,624,665 | 93,444 |
| ENST00000322157.9 | hg19 | chr17 | 45,608,474 | 45,700,642 | 92,169 |
| ENST00000530173.6 | hg19 | chr17 | 45,600,323 | 45,700,642 | 100,320 |
| ENST00000532729.6 | hg19 | chr17 | 45,608,474 | 45,670,041 | 61,568 |
| ENST00000677120.1 | hg19 | chr17 | 45,608,588 | 45,702,031 | 93,444 |
| ENST00000677370.1 | hg19 | chr17 | 45,608,635 | 45,700,625 | 91,991 |
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