SRD5A1 steroid 5 alpha-reductase 1

Information
Symbol
SRD5A1
Type
protein-coding
Description
steroid 5 alpha-reductase 1
Entrez Gene ID
6715
Genome
hg19
Position
chr5:6,633,553-6,674,499
Genome
hg38
Position
chr5:6,633,440-6,674,386
MIM
184753 OMIM
HGNC
HGNC:11284 HGNC
Ensembl
ENSG00000145545 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 6
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
42
0
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 S5AR 1
MIM 184753 OMIM
HGNC HGNC:11284 HGNC
Ensembl ENSG00000145545 Ensembl
AllianceGenome HGNC:11284
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000274192.7 hg38 chr5 6,633,440 6,674,386 40,947
ENST00000274192.7 hg19 chr5 6,633,553 6,674,499 40,947
Genome browser