PDCD1 programmed cell death 1

Information
Symbol
PDCD1
Type
protein-coding
Description
programmed cell death 1
Entrez Gene ID
5133
Genome
hg19
Position
chr2:242,792,036-242,801,046
Genome
hg38
Position
chr2:241,849,884-241,858,894
MIM
600244 OMIM
HGNC
HGNC:8760 HGNC
Ensembl
ENSG00000188389 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 32
Likely benign 0 8
not provided 6 0
risk factor 0 2
Uncertain significance 0 12
Ranking
ClinVar
0
0
12
40
2
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 CD279
SYNONYM PD-1
SYNONYM PD1
SYNONYM SLEB2
SYNONYM hPD-1
SYNONYM hPD-l
SYNONYM hSLE1
MIM 600244 OMIM
HGNC HGNC:8760 HGNC
Ensembl ENSG00000188389 Ensembl
AllianceGenome HGNC:8760
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000334409.10 hg38 chr2 241,849,884 241,858,894 9,011
ENST00000334409.10 hg19 chr2 242,792,036 242,801,046 9,011
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