PYCR2 pyrroline-5-carboxylate reductase 2

Information
Symbol
PYCR2
Type
protein-coding
Description
pyrroline-5-carboxylate reductase 2
Entrez Gene ID
29920
Genome
hg19
Position
chr1:226,107,578-226,111,950
Genome
hg38
Position
chr1:225,919,878-225,924,250
MIM
616406 OMIM
HGNC
HGNC:30262 HGNC
Ensembl
ENSG00000143811 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 28
Benign 0 20
Likely benign 0 72
Conflicting classifications of pathogenicity 0 12
Uncertain significance 0 86
Ranking
ClinVar
0
0
34
176
8
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 HLD10
SYNONYM P5CR2
MIM 616406 OMIM
HGNC HGNC:30262 HGNC
Ensembl ENSG00000143811 Ensembl
AllianceGenome HGNC:30262
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000343818.11 hg38 chr1 225,919,878 225,924,250 4,373
ENST00000612039.4 hg38 chr1 225,919,877 225,924,340 4,464
ENST00000612039.4 hg19 chr1 226,107,577 226,112,040 4,464
ENST00000343818.11 hg19 chr1 226,107,578 226,111,950 4,373
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