BEST2 bestrophin 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 40 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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44 |
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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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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 | VMD2L1 |
MIM | 607335 OMIM |
HGNC | HGNC:17107 HGNC |
Ensembl | ENSG00000039987 Ensembl |
AllianceGenome | HGNC:17107 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000549706.5 | hg38 | chr19 | 12,751,702 | 12,758,406 | 6,705 |
ENST00000553030.6 | hg38 | chr19 | 12,751,791 | 12,758,458 | 6,668 |
ENST00000042931.1 | hg38 | chr19 | 12,752,593 | 12,758,455 | 5,863 |
ENST00000549706.5 | hg19 | chr19 | 12,862,516 | 12,869,220 | 6,705 |
ENST00000553030.6 | hg19 | chr19 | 12,862,605 | 12,869,272 | 6,668 |
ENST00000042931.1 | hg19 | chr19 | 12,863,407 | 12,869,269 | 5,863 |
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