ACR acrosin
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 8 |
| Likely benign | 0 | 4 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 42 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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2 |
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52 |
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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
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 | |||||||||||
Search Word
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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 | SPGF87 |
| MIM | 102480 OMIM |
| HGNC | HGNC:126 HGNC |
| Ensembl | ENSG00000100312 Ensembl |
| AllianceGenome | HGNC:126 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000216139.10 | hg38 | chr22 | 50,738,204 | 50,745,339 | 7,136 |
| ENST00000529621.1 | hg38 | chr22 | 50,738,230 | 50,740,757 | 2,528 |
| ENST00000216139.10 | hg19 | chr22 | 51,176,632 | 51,183,767 | 7,136 |
| ENST00000529621.1 | hg19 | chr22 | 51,176,658 | 51,179,185 | 2,528 |
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