NBAS NBAS subunit of NRZ tethering complex

Information
Symbol
NBAS
Type
protein-coding
Description
NBAS subunit of NRZ tethering complex
Entrez Gene ID
51594
Genome
hg19
Position
chr2:15,307,040-15,701,458
Genome
hg38
Position
chr2:15,166,916-15,561,334
MIM
608025 OMIM
HGNC
HGNC:15625 HGNC
Ensembl
ENSG00000151779 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 238
Likely pathogenic 0 144
Benign 0 378
Likely benign 0 2,084
Conflicting classifications of pathogenicity 0 174
not provided 1 0
Uncertain significance 0 1,724
Ranking
ClinVar
0
0
388
4,100
12
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 ILFS2
SYNONYM NAG
SYNONYM SOPH
MIM 608025 OMIM
HGNC HGNC:15625 HGNC
Ensembl ENSG00000151779 Ensembl
AllianceGenome HGNC:15625
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000281513.10 hg38 chr2 15,166,916 15,561,334 394,419
ENST00000700066.1 hg38 chr2 15,417,385 15,555,919 138,535
ENST00000281513.10 hg19 chr2 15,307,040 15,701,458 394,419
ENST00000700066.1 hg19 chr2 15,557,509 15,696,043 138,535
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