ACRV1 acrosomal vesicle protein 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 16 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
14 |
 |
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
Search Word
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | D11S4365 |
| SYNONYM | SP-10 |
| SYNONYM | SPACA2 |
| MIM | 102525 OMIM |
| HGNC | HGNC:127 HGNC |
| Ensembl | ENSG00000134940 Ensembl |
| AllianceGenome | HGNC:127 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000315608.7 | hg38 | chr11 | 125,672,343 | 125,680,831 | 8,489 |
| ENST00000533904.6 | hg38 | chr11 | 125,671,522 | 125,680,847 | 9,326 |
| ENST00000530048.5 | hg38 | chr11 | 125,672,483 | 125,680,831 | 8,349 |
| ENST00000527795.1 | hg38 | chr11 | 125,672,493 | 125,680,874 | 8,382 |
| ENST00000533904.6 | hg19 | chr11 | 125,541,417 | 125,550,742 | 9,326 |
| ENST00000315608.7 | hg19 | chr11 | 125,542,238 | 125,550,726 | 8,489 |
| ENST00000530048.5 | hg19 | chr11 | 125,542,378 | 125,550,726 | 8,349 |
| ENST00000527795.1 | hg19 | chr11 | 125,542,388 | 125,550,769 | 8,382 |
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