PYCR1 pyrroline-5-carboxylate reductase 1

Information
Symbol
PYCR1
Type
protein-coding
Description
pyrroline-5-carboxylate reductase 1
Entrez Gene ID
5831
Genome
hg19
Position
chr17:79,890,811-79,895,115
Genome
hg38
Position
chr17:81,932,935-81,937,239
MIM
179035 OMIM
HGNC
HGNC:9721 HGNC
Ensembl
ENSG00000183010 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 48
Likely pathogenic 0 36
Benign 0 38
Likely benign 0 210
Conflicting classifications of pathogenicity 0 42
Uncertain significance 0 232
Ranking
ClinVar
0
0
108
416
14
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 ARCL2B
SYNONYM ARCL3B
SYNONYM P5C
SYNONYM P5CR
SYNONYM PIG45
SYNONYM PP222
SYNONYM PRO3
SYNONYM PYCR
MIM 179035 OMIM
HGNC HGNC:9721 HGNC
Ensembl ENSG00000183010 Ensembl
AllianceGenome HGNC:9721
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000629768.2 hg38 chr17 81,932,384 81,937,328 4,945
ENST00000403172.8 hg38 chr17 81,932,384 81,937,328 4,945
ENST00000577756.5 hg38 chr17 81,932,921 81,936,869 3,949
ENST00000402252.6 hg38 chr17 81,932,935 81,937,239 4,305
ENST00000337943.9 hg38 chr17 81,932,384 81,937,257 4,874
ENST00000619204.4 hg38 chr17 81,932,384 81,937,328 4,945
ENST00000329875.13 hg38 chr17 81,932,391 81,937,300 4,910
ENST00000337943.9 hg19 chr17 79,890,260 79,895,133 4,874
ENST00000403172.8 hg19 chr17 79,890,260 79,895,204 4,945
ENST00000329875.13 hg19 chr17 79,890,267 79,895,176 4,910
ENST00000577756.5 hg19 chr17 79,890,797 79,894,745 3,949
ENST00000402252.6 hg19 chr17 79,890,811 79,895,115 4,305
ENST00000629768.2 hg19 chr17 79,890,260 79,895,204 4,945
ENST00000619204.4 hg19 chr17 79,890,260 79,895,204 4,945
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