VPS51 VPS51 subunit of GARP complex
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Benign | 0 | 8 |
Likely benign | 0 | 22 |
Uncertain significance | 0 | 106 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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134 |
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6 |
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 | |||||
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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 |
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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | ANG2 |
SYNONYM | ANG3 |
SYNONYM | C11orf2 |
SYNONYM | C11orf3 |
SYNONYM | FFR |
SYNONYM | PCH13 |
MIM | 615738 OMIM |
HGNC | HGNC:1172 HGNC |
Ensembl | ENSG00000149823 Ensembl |
AllianceGenome | HGNC:1172 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000279281.8 | hg38 | chr11 | 65,096,214 | 65,111,862 | 15,649 |
ENST00000279281.8 | hg19 | chr11 | 64,863,686 | 64,879,334 | 15,649 |
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