DBNL drebrin like
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 16 |
| Likely pathogenic | 0 | 8 |
| Benign | 0 | 20 |
| Likely benign | 0 | 110 |
| Conflicting classifications of pathogenicity | 0 | 26 |
| Uncertain significance | 0 | 216 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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72 |
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284 |
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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
[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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| Filtering | : |
| 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 | ABP1 |
| SYNONYM | HIP-55 |
| SYNONYM | HIP55 |
| SYNONYM | SH3P7 |
| MIM | 610106 OMIM |
| HGNC | HGNC:2696 HGNC |
| Ensembl | ENSG00000136279 Ensembl |
| AllianceGenome | HGNC:2696 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000448521.6 | hg38 | chr7 | 44,044,702 | 44,069,456 | 24,755 |
| ENST00000456905.5 | hg38 | chr7 | 44,044,673 | 44,060,943 | 16,271 |
| ENST00000468694.5 | hg38 | chr7 | 44,044,711 | 44,061,637 | 16,927 |
| ENST00000490734.6 | hg38 | chr7 | 44,044,640 | 44,061,714 | 17,075 |
| ENST00000494774.5 | hg38 | chr7 | 44,044,717 | 44,061,716 | 17,000 |
| ENST00000440166.5 | hg38 | chr7 | 44,044,676 | 44,061,145 | 16,470 |
| ENST00000452943.5 | hg38 | chr7 | 44,044,702 | 44,061,172 | 16,471 |
| ENST00000456905.5 | hg19 | chr7 | 44,084,272 | 44,100,542 | 16,271 |
| ENST00000440166.5 | hg19 | chr7 | 44,084,275 | 44,100,744 | 16,470 |
| ENST00000448521.6 | hg19 | chr7 | 44,084,301 | 44,109,055 | 24,755 |
| ENST00000452943.5 | hg19 | chr7 | 44,084,301 | 44,100,771 | 16,471 |
| ENST00000468694.5 | hg19 | chr7 | 44,084,310 | 44,101,236 | 16,927 |
| ENST00000490734.6 | hg19 | chr7 | 44,084,239 | 44,101,313 | 17,075 |
| ENST00000494774.5 | hg19 | chr7 | 44,084,316 | 44,101,315 | 17,000 |
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