ACRBP acrosin binding protein
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| risk factor | 0 | 2 |
| Uncertain significance | 0 | 48 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
50 |
 |
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
| 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
| Target data | : |
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 | CT23 |
| SYNONYM | OY-TES-1 |
| SYNONYM | SP32 |
| MIM | 608352 OMIM |
| HGNC | HGNC:17195 HGNC |
| Ensembl | ENSG00000111644 Ensembl |
| AllianceGenome | HGNC:17195 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000229243.7 | hg38 | chr12 | 6,638,075 | 6,647,432 | 9,358 |
| ENST00000536350.5 | hg38 | chr12 | 6,644,055 | 6,647,393 | 3,339 |
| ENST00000414226.6 | hg38 | chr12 | 6,638,160 | 6,647,411 | 9,252 |
| ENST00000229243.7 | hg19 | chr12 | 6,747,241 | 6,756,598 | 9,358 |
| ENST00000414226.6 | hg19 | chr12 | 6,747,326 | 6,756,577 | 9,252 |
| ENST00000536350.5 | hg19 | chr12 | 6,753,221 | 6,756,559 | 3,339 |
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