ZNF513 zinc finger protein 513

Information
Symbol
ZNF513
Type
protein-coding
Description
zinc finger protein 513
Entrez Gene ID
130557
Genome
hg19
Position
chr2:27,600,102-27,603,601
Genome
hg38
Position
chr2:27,377,235-27,380,734
MIM
613598 OMIM
HGNC
HGNC:26498 HGNC
Ensembl
ENSG00000163795 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 10
Likely benign 0 258
Conflicting classifications of pathogenicity 0 40
Uncertain significance 0 502
Ranking
ClinVar
0
0
82
682
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 :
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 HMFT0656
SYNONYM RP58
SYNONYM Zfp513
MIM 613598 OMIM
HGNC HGNC:26498 HGNC
Ensembl ENSG00000163795 Ensembl
AllianceGenome HGNC:26498
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000323703.11 hg38 chr2 27,377,235 27,380,734 3,500
ENST00000407879.1 hg38 chr2 27,377,235 27,380,444 3,210
ENST00000407879.1 hg19 chr2 27,600,102 27,603,311 3,210
ENST00000323703.11 hg19 chr2 27,600,102 27,603,601 3,500
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