NECAP1 NECAP endocytosis associated 1

Information
Symbol
NECAP1
Type
protein-coding
Description
NECAP endocytosis associated 1
Entrez Gene ID
25977
Genome
hg19
Position
chr12:8,229,535-8,250,455
Genome
hg38
Position
chr12:8,076,939-8,097,859
MIM
611623 OMIM
HGNC
HGNC:24539 HGNC
Ensembl
ENSG00000089818 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 2
Benign 0 8
Likely benign 0 164
Uncertain significance 0 186
Ranking
ClinVar
0
0
36
322
4
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 :
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
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 DEE21
SYNONYM EIEE21
MIM 611623 OMIM
HGNC HGNC:24539 HGNC
Ensembl ENSG00000089818 Ensembl
AllianceGenome HGNC:24539
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000639955.1 hg38 chr12 8,076,939 8,097,859 20,921
ENST00000639811.1 hg38 chr12 8,082,280 8,097,531 15,252
ENST00000339754.11 hg38 chr12 8,082,274 8,097,881 15,608
ENST00000639167.1 hg38 chr12 8,082,280 8,097,738 15,459
ENST00000638237.1 hg38 chr12 8,082,266 8,097,768 15,503
ENST00000638237.1 hg19 chr12 8,234,862 8,250,364 15,503
ENST00000339754.11 hg19 chr12 8,234,870 8,250,477 15,608
ENST00000639167.1 hg19 chr12 8,234,876 8,250,334 15,459
ENST00000639811.1 hg19 chr12 8,234,876 8,250,127 15,252
ENST00000639955.1 hg19 chr12 8,229,535 8,250,455 20,921
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