CHMP3 charged multivesicular body protein 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 22 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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22 |
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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
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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Category | : |
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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 | CGI-149 |
SYNONYM | NEDF |
SYNONYM | VPS24 |
MIM | 610052 OMIM |
HGNC | HGNC:29865 HGNC |
Ensembl | ENSG00000115561 Ensembl |
AllianceGenome | HGNC:29865 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000409727.5 | hg38 | chr2 | 86,504,528 | 86,563,374 | 58,847 |
ENST00000409225.2 | hg38 | chr2 | 86,505,444 | 86,563,479 | 58,036 |
ENST00000263856.9 | hg38 | chr2 | 86,503,430 | 86,563,443 | 60,014 |
ENST00000263856.9 | hg19 | chr2 | 86,730,553 | 86,790,566 | 60,014 |
ENST00000409727.5 | hg19 | chr2 | 86,731,651 | 86,790,497 | 58,847 |
ENST00000409225.2 | hg19 | chr2 | 86,732,567 | 86,790,602 | 58,036 |
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