NUMBL NUMB like endocytic adaptor protein

Information
Symbol
NUMBL
Type
protein-coding
Description
NUMB like endocytic adaptor protein
Entrez Gene ID
9253
Genome
hg19
Position
chr19:41,171,810-41,196,556
Genome
hg38
Position
chr19:40,665,905-40,690,651
MIM
604018 OMIM
HGNC
HGNC:8061 HGNC
Ensembl
ENSG00000105245 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 54
Ranking
ClinVar
0
0
0
58
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
Category :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
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
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
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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