PWP1 PWP1 homolog, endonuclein

Information
Symbol
PWP1
Type
protein-coding
Description
PWP1 homolog, endonuclein
Entrez Gene ID
11137
Genome
hg19
Position
chr12:108,079,576-108,106,939
Genome
hg38
Position
chr12:107,685,799-107,713,162
MIM
620055 OMIM
HGNC
HGNC:17015 HGNC
Ensembl
ENSG00000136045 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
32
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 IEF-SSP-9502
SYNONYM NCLB
MIM 620055 OMIM
HGNC HGNC:17015 HGNC
Ensembl ENSG00000136045 Ensembl
AllianceGenome HGNC:17015
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000541166.1 hg38 chr12 107,686,042 107,712,412 26,371
ENST00000412830.8 hg38 chr12 107,685,799 107,713,162 27,364
ENST00000412830.8 hg19 chr12 108,079,576 108,106,939 27,364
ENST00000541166.1 hg19 chr12 108,079,819 108,106,189 26,371
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