ARRB2 arrestin beta 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 30 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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38 |
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0 |
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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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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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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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 | ARB2 |
SYNONYM | ARR2 |
SYNONYM | BARR2 |
MIM | 107941 OMIM |
HGNC | HGNC:712 HGNC |
Ensembl | ENSG00000141480 Ensembl |
AllianceGenome | HGNC:712 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000381488.10 | hg38 | chr17 | 4,710,693 | 4,721,061 | 10,369 |
ENST00000412477.7 | hg38 | chr17 | 4,710,693 | 4,721,496 | 10,804 |
ENST00000346341.6 | hg38 | chr17 | 4,710,634 | 4,721,499 | 10,866 |
ENST00000575877.5 | hg38 | chr17 | 4,710,699 | 4,721,496 | 10,798 |
ENST00000574954.5 | hg38 | chr17 | 4,710,630 | 4,721,096 | 10,467 |
ENST00000269260.7 | hg38 | chr17 | 4,710,632 | 4,721,497 | 10,866 |
ENST00000572457.5 | hg38 | chr17 | 4,710,643 | 4,721,482 | 10,840 |
ENST00000571206.1 | hg38 | chr17 | 4,715,589 | 4,721,138 | 5,550 |
ENST00000574954.5 | hg19 | chr17 | 4,613,925 | 4,624,391 | 10,467 |
ENST00000269260.7 | hg19 | chr17 | 4,613,927 | 4,624,792 | 10,866 |
ENST00000346341.6 | hg19 | chr17 | 4,613,929 | 4,624,794 | 10,866 |
ENST00000381488.10 | hg19 | chr17 | 4,613,988 | 4,624,356 | 10,369 |
ENST00000412477.7 | hg19 | chr17 | 4,613,988 | 4,624,791 | 10,804 |
ENST00000571206.1 | hg19 | chr17 | 4,618,884 | 4,624,433 | 5,550 |
ENST00000572457.5 | hg19 | chr17 | 4,613,938 | 4,624,777 | 10,840 |
ENST00000575877.5 | hg19 | chr17 | 4,613,994 | 4,624,791 | 10,798 |
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