SRD5A3 steroid 5 alpha-reductase 3

Information
Symbol
SRD5A3
Type
protein-coding
Description
steroid 5 alpha-reductase 3
Entrez Gene ID
79644
Genome
hg19
Position
chr4:56,212,409-56,239,267
Genome
hg38
Position
chr4:55,346,242-55,373,100
MIM
611715 OMIM
HGNC
HGNC:25812 HGNC
Ensembl
ENSG00000128039 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 16
Benign 0 56
Likely benign 0 100
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 222
Ranking
ClinVar
0
0
48
354
10
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 CDG1P
SYNONYM CDG1Q
SYNONYM KRIZI
SYNONYM S5AR
SYNONYM S5AR 3
SYNONYM SRD5A2L
SYNONYM SRD5A2L1
MIM 611715 OMIM
HGNC HGNC:25812 HGNC
Ensembl ENSG00000128039 Ensembl
AllianceGenome HGNC:25812
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000264228.9 hg38 chr4 55,346,242 55,373,100 26,859
ENST00000679836.1 hg38 chr4 55,346,213 55,371,911 25,699
ENST00000679836.1 hg19 chr4 56,212,380 56,238,078 25,699
ENST00000264228.9 hg19 chr4 56,212,409 56,239,267 26,859
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