SPR sepiapterin reductase

Information
Symbol
SPR
Type
protein-coding
Description
sepiapterin reductase
Entrez Gene ID
6697
Genome
hg19
Position
chr2:73,114,537-73,119,287
Genome
hg38
Position
chr2:72,887,408-72,892,158
MIM
182125 OMIM
HGNC
HGNC:11257 HGNC
Ensembl
ENSG00000116096 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 44
Likely pathogenic 0 20
Benign 0 14
Likely benign 0 206
Conflicting classifications of pathogenicity 0 28
Uncertain significance 0 192
Ranking
ClinVar
0
0
56
398
18
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 SDR38C1
MIM 182125 OMIM
HGNC HGNC:11257 HGNC
Ensembl ENSG00000116096 Ensembl
AllianceGenome HGNC:11257
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000713723.1 hg38 chr2 72,887,408 72,892,158 4,751
ENST00000234454.6 hg38 chr2 72,887,408 72,892,158 4,751
ENST00000713723.1 hg19 chr2 73,114,537 73,119,287 4,751
ENST00000234454.6 hg19 chr2 73,114,537 73,119,287 4,751
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