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
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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 | |||||
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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 | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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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 |
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ID | Genome | Chromosome | Start | End | Length |
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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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