NCKAP1L NCK associated protein 1 like

Information
Symbol
NCKAP1L
Type
protein-coding
Description
NCK associated protein 1 like
Entrez Gene ID
3071
Genome
hg19
Position
chr12:54,891,536-54,942,027
Genome
hg38
Position
chr12:54,497,752-54,548,243
MIM
141180 OMIM
HGNC
HGNC:4862 HGNC
Ensembl
ENSG00000123338 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 12
Benign 0 70
Likely benign 0 396
Conflicting classifications of pathogenicity 0 10
not provided 1 0
Uncertain significance 0 224
Ranking
ClinVar
0
0
36
662
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
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 HEM1
SYNONYM IMD72
MIM 141180 OMIM
HGNC HGNC:4862 HGNC
Ensembl ENSG00000123338 Ensembl
AllianceGenome HGNC:4862
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000293373.11 hg38 chr12 54,497,752 54,548,243 50,492
ENST00000545638.2 hg38 chr12 54,498,784 54,542,963 44,180
ENST00000293373.11 hg19 chr12 54,891,536 54,942,027 50,492
ENST00000545638.2 hg19 chr12 54,892,568 54,936,747 44,180
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