PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1

Information
Symbol
PYROXD1
Type
protein-coding
Description
pyridine nucleotide-disulphide oxidoreductase domain 1
Entrez Gene ID
79912
Genome
hg19
Position
chr12:21,590,589-21,624,184
Genome
hg38
Position
chr12:21,437,655-21,471,250
MIM
617220 OMIM
HGNC
HGNC:26162 HGNC
Ensembl
ENSG00000121350 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 26
Likely pathogenic 2 14
Benign 0 184
Likely benign 2 342
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 562
Ranking
ClinVar
0
0
192
920
6
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 MFM8
MIM 617220 OMIM
HGNC HGNC:26162 HGNC
Ensembl ENSG00000121350 Ensembl
AllianceGenome HGNC:26162
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000240651.14 hg38 chr12 21,437,655 21,471,250 33,596
ENST00000538582.5 hg38 chr12 21,437,915 21,470,350 32,436
ENST00000240651.14 hg19 chr12 21,590,589 21,624,184 33,596
ENST00000538582.5 hg19 chr12 21,590,849 21,623,284 32,436
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