NUMBL NUMB like endocytic adaptor protein
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 54 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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58 |
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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
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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 | CAG3A |
SYNONYM | CTG3a |
SYNONYM | NBL |
SYNONYM | NUMB-R |
SYNONYM | NUMBLIKE |
SYNONYM | NUMBR |
SYNONYM | TNRC23 |
MIM | 604018 OMIM |
HGNC | HGNC:8061 HGNC |
Ensembl | ENSG00000105245 Ensembl |
AllianceGenome | HGNC:8061 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000252891.8 | hg38 | chr19 | 40,665,905 | 40,690,651 | 24,747 |
ENST00000598779.5 | hg38 | chr19 | 40,667,034 | 40,690,553 | 23,520 |
ENST00000540131.5 | hg38 | chr19 | 40,667,341 | 40,690,122 | 22,782 |
ENST00000252891.8 | hg19 | chr19 | 41,171,810 | 41,196,556 | 24,747 |
ENST00000598779.5 | hg19 | chr19 | 41,172,939 | 41,196,458 | 23,520 |
ENST00000540131.5 | hg19 | chr19 | 41,173,246 | 41,196,027 | 22,782 |
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