PJVK pejvakin

Information
Symbol
PJVK
Type
protein-coding
Description
pejvakin
Entrez Gene ID
494513
Genome
hg19
Position
chr2:179,316,105-179,326,829
Genome
hg38
Position
chr2:178,451,378-178,462,102
MIM
610219 OMIM
HGNC
HGNC:29502 HGNC
Ensembl
ENSG00000204311 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 66
Likely pathogenic 0 16
Benign 0 30
Likely benign 0 232
Conflicting classifications of pathogenicity 0 28
Uncertain significance 0 128
Ranking
ClinVar
0
0
42
406
16
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 DFNB59
MIM 610219 OMIM
HGNC HGNC:29502 HGNC
Ensembl ENSG00000204311 Ensembl
AllianceGenome HGNC:29502
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000642192.1 hg38 chr2 178,452,435 178,461,409 8,975
ENST00000644580.2 hg38 chr2 178,451,378 178,462,102 10,725
ENST00000645817.1 hg38 chr2 178,451,431 178,461,287 9,857
ENST00000375129.8 hg38 chr2 178,453,267 178,461,274 8,008
ENST00000642492.1 hg38 chr2 178,451,346 178,461,292 9,947
ENST00000647226.1 hg38 chr2 178,451,740 178,461,394 9,655
ENST00000642492.1 hg19 chr2 179,316,073 179,326,019 9,947
ENST00000644580.2 hg19 chr2 179,316,105 179,326,829 10,725
ENST00000645817.1 hg19 chr2 179,316,158 179,326,014 9,857
ENST00000647226.1 hg19 chr2 179,316,467 179,326,121 9,655
ENST00000642192.1 hg19 chr2 179,317,162 179,326,136 8,975
ENST00000375129.8 hg19 chr2 179,317,994 179,326,001 8,008
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