SRD5A2 steroid 5 alpha-reductase 2

Information
Symbol
SRD5A2
Type
protein-coding
Description
steroid 5 alpha-reductase 2
Entrez Gene ID
6716
Genome
hg19
Position
chr2:31,747,550-31,806,007
Genome
hg38
Position
chr2:31,522,480-31,580,938
MIM
607306 OMIM
HGNC
HGNC:11285 HGNC
Ensembl
ENSG00000277893 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 8 140
Likely pathogenic 0 42
Benign 0 60
Likely benign 0 198
Conflicting classifications of pathogenicity 0 18
no classification for the single variant 0 2
not provided 0 36
Uncertain significance 0 100
Ranking
ClinVar
0
0
84
400
24
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
MIM 607306 OMIM
HGNC HGNC:11285 HGNC
Ensembl ENSG00000277893 Ensembl
AllianceGenome HGNC:11285
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000622030.2 hg38 chr2 31,522,480 31,580,938 58,459
ENST00000622030.2 hg19 chr2 31,747,550 31,806,007 58,458
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