PHF21A PHD finger protein 21A

Information
Symbol
PHF21A
Type
protein-coding
Description
PHD finger protein 21A
Entrez Gene ID
51317
Genome
hg19
Position
chr11:45,950,870-46,143,005
Genome
hg38
Position
chr11:45,929,319-46,121,454
MIM
608325 OMIM
HGNC
HGNC:24156 HGNC
Ensembl
ENSG00000135365 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 36
Likely pathogenic 0 18
Benign 0 72
Likely benign 0 158
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 170
Ranking
ClinVar
0
0
46
388
10
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 BHC80
SYNONYM BM-006
SYNONYM IDDBCS
SYNONYM NEDMS
MIM 608325 OMIM
HGNC HGNC:24156 HGNC
Ensembl ENSG00000135365 Ensembl
AllianceGenome HGNC:24156
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000690620.1 hg38 chr11 45,932,652 46,120,811 188,160
ENST00000418153.6 hg38 chr11 45,933,481 46,121,010 187,530
ENST00000525676.6 hg38 chr11 45,933,831 46,118,786 184,956
ENST00000323180.10 hg38 chr11 45,932,566 46,121,178 188,613
ENST00000676320.1 hg38 chr11 45,929,319 46,121,454 192,136
ENST00000323180.10 hg19 chr11 45,954,117 46,142,729 188,613
ENST00000676320.1 hg19 chr11 45,950,870 46,143,005 192,136
ENST00000418153.6 hg19 chr11 45,955,032 46,142,561 187,530
ENST00000525676.6 hg19 chr11 45,955,382 46,140,337 184,956
ENST00000690620.1 hg19 chr11 45,954,203 46,142,362 188,160
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