SRD5A2 (steroid 5 alpha-reductase 2) - Rat Genome Database

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Gene: SRD5A2 (steroid 5 alpha-reductase 2) Homo sapiens
Analyze
Symbol: SRD5A2
Name: steroid 5 alpha-reductase 2
RGD ID: 737503
HGNC Page HGNC
Description: Enables sterol 5-alpha reductase activity and testosterone dehydrogenase [NAD(P)] activity. Involved in androgen metabolic process; male gonad development; and testosterone biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Implicated in hypospadias and prostate cancer. Biomarker of breast carcinoma and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-oxo-5 alpha-steroid 4-dehydrogenase 2; 3-oxo-5-alpha-steroid 4-dehydrogenase 2; 5 alpha-SR2; MGC138457; S5AR 2; SR type 2; steroid 5-alpha-reductase 2; steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2); type II 5-alpha reductase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SRD5A2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl231,522,480 - 31,580,938 (-)EnsemblGRCh38hg38GRCh38
GRCh38231,522,480 - 31,665,651 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37231,747,550 - 31,806,007 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36231,603,160 - 31,659,544 (-)NCBINCBI36hg18NCBI36
Build 34231,661,306 - 31,717,691NCBI
Celera231,590,884 - 31,647,296 (-)NCBI
Cytogenetic Map2p23.1NCBI
HuRef231,485,637 - 31,542,001 (-)NCBIHuRef
CHM1_1231,678,089 - 31,734,473 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,17-Androstanediol glucuronide  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
azoxystrobin  (ISO)
benzo[a]pyrene  (EXP)
bifenthrin  (ISO)
bisphenol A  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
chlorogenic acid  (EXP)
chlorpyrifos  (ISO)
clothianidin  (EXP)
cyclosporin A  (EXP)
cypermethrin  (ISO)
DDE  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dutasteride  (EXP)
fenarimol  (EXP)
finasteride  (EXP)
fluoroethene  (EXP)
flutamide  (EXP)
furan  (ISO)
genistein  (EXP)
glyphosate  (ISO)
hydroxyflutamide  (ISO)
imidacloprid  (ISO)
linuron  (EXP)
mangiferin  (EXP)
methyltestosterone  (EXP)
metoclopramide  (ISO)
N-Nitrosopyrrolidine  (EXP)
O-methyleugenol  (EXP)
Osajin  (EXP)
paracetamol  (ISO)
PCB138  (ISO)
perfluorooctanoic acid  (ISO)
piperidine  (EXP,ISO)
pirinixic acid  (ISO)
Pomiferin  (EXP)
pravastatin  (ISO)
prochloraz  (EXP)
progesterone  (EXP)
puerarin  (EXP)
resveratrol  (EXP,ISO)
Rosavin  (EXP)
sulpiride  (ISO)
testosterone  (EXP,ISO)
tetrachloroethene  (ISO)
thiabendazole  (ISO)
titanium dioxide  (ISO)
tributylstannane  (EXP,ISO)
Tributyltin oxide  (EXP)
triphenylstannane  (EXP)
zaragozic acid A  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1406794   PMID:1505484   PMID:1522235   PMID:1944596   PMID:7554313   PMID:7688765   PMID:8626825   PMID:8768837   PMID:9066886   PMID:9208814   PMID:9467575   PMID:9745434  
PMID:9843052   PMID:10342882   PMID:10718838   PMID:10898110   PMID:10913941   PMID:10999800   PMID:11164181   PMID:11303586   PMID:11355945   PMID:11381197   PMID:11440959   PMID:11547131  
PMID:11571725   PMID:11588134   PMID:11751447   PMID:11845321   PMID:11847524   PMID:11869378   PMID:11903314   PMID:11927504   PMID:12042668   PMID:12100746   PMID:12111704   PMID:12115497  
PMID:12137870   PMID:12164325   PMID:12210487   PMID:12370109   PMID:12446983   PMID:12477932   PMID:12670724   PMID:12712437   PMID:12738739   PMID:12746845   PMID:12771801   PMID:12788885  
PMID:12815006   PMID:12843198   PMID:12869400   PMID:12971967   PMID:14594182   PMID:14652280   PMID:14693733   PMID:14739525   PMID:15061984   PMID:15136785   PMID:15201804   PMID:15241822  
PMID:15266301   PMID:15326487   PMID:15337247   PMID:15389785   PMID:15477877   PMID:15528927   PMID:15538746   PMID:15583024   PMID:15711606   PMID:15733480   PMID:15770495   PMID:16018939  
PMID:16029630   PMID:16039774   PMID:16098368   PMID:16155734   PMID:16174723   PMID:16181229   PMID:16325991   PMID:16487406   PMID:16608396   PMID:16716118   PMID:16736621   PMID:16818707  
PMID:16821341   PMID:16849416   PMID:16859836   PMID:17108148   PMID:17136762   PMID:17220347   PMID:17328668   PMID:17376218   PMID:17448593   PMID:17507624   PMID:17588204   PMID:17609295  
PMID:17669147   PMID:17785571   PMID:17823934   PMID:18000232   PMID:18086758   PMID:18097518   PMID:18163429   PMID:18258185   PMID:18268111   PMID:18306354   PMID:18314109   PMID:18350250  
PMID:18391525   PMID:18391540   PMID:18431743   PMID:18469342   PMID:18483391   PMID:18495332   PMID:18501301   PMID:18503826   PMID:18566991   PMID:18717241   PMID:18722876   PMID:18767927  
PMID:18780294   PMID:18949357   PMID:18976975   PMID:19064572   PMID:19125422   PMID:19215786   PMID:19246976   PMID:19267353   PMID:19383266   PMID:19443907   PMID:19492581   PMID:19505920  
PMID:19574343   PMID:19598235   PMID:19760631   PMID:19846565   PMID:19913121   PMID:19914946   PMID:19926884   PMID:19956849   PMID:19962986   PMID:20019388   PMID:20056642   PMID:20059664  
PMID:20132346   PMID:20173016   PMID:20179965   PMID:20200332   PMID:20214802   PMID:20215396   PMID:20381444   PMID:20511729   PMID:20628086   PMID:20634197   PMID:20734064   PMID:20736251  
PMID:20800085   PMID:20855474   PMID:21037542   PMID:21147889   PMID:21177315   PMID:21218640   PMID:21402750   PMID:21511288   PMID:21530059   PMID:21540559   PMID:21557268   PMID:21627373  
PMID:21631525   PMID:21676395   PMID:21714467   PMID:21715084   PMID:21873635   PMID:22272144   PMID:22362597   PMID:22453073   PMID:22486281   PMID:22509838   PMID:22707254   PMID:22735779  
PMID:23044880   PMID:23112260   PMID:23277398   PMID:23329752   PMID:23499746   PMID:23505265   PMID:23664981   PMID:23729601   PMID:23867117   PMID:23953348   PMID:24012728   PMID:24182552  
PMID:24244276   PMID:24277450   PMID:24365257   PMID:24412121   PMID:24665940   PMID:24737579   PMID:24810473   PMID:24816252   PMID:25310105   PMID:25598933   PMID:25700986   PMID:25735326  
PMID:25974403   PMID:26092425   PMID:26169017   PMID:26174685   PMID:26332453   PMID:26345832   PMID:26453174   PMID:26751392   PMID:26761946   PMID:26855069   PMID:26930261   PMID:27051040  
PMID:27086719   PMID:27224879   PMID:27848231   PMID:27849622   PMID:28347315   PMID:28397209   PMID:28410957   PMID:28489754   PMID:28544750   PMID:28663096   PMID:28713005   PMID:28940538  
PMID:28947209   PMID:29080015   PMID:29084161   PMID:29187470   PMID:30069579   PMID:30269266   PMID:30353958   PMID:30695888   PMID:30703436   PMID:30782264   PMID:30815925   PMID:31219235  
PMID:31613402   PMID:32036582   PMID:32296183   PMID:32536088   PMID:32669180   PMID:32713132   PMID:32716491   PMID:32784047   PMID:32917158   PMID:33110062   PMID:33418075  


Genomics

Comparative Map Data
SRD5A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl231,522,480 - 31,580,938 (-)EnsemblGRCh38hg38GRCh38
GRCh38231,522,480 - 31,665,651 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37231,747,550 - 31,806,007 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36231,603,160 - 31,659,544 (-)NCBINCBI36hg18NCBI36
Build 34231,661,306 - 31,717,691NCBI
Celera231,590,884 - 31,647,296 (-)NCBI
Cytogenetic Map2p23.1NCBI
HuRef231,485,637 - 31,542,001 (-)NCBIHuRef
CHM1_1231,678,089 - 31,734,473 (-)NCBICHM1_1
Srd5a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391774,321,886 - 74,354,855 (-)NCBIGRCm39mm39
GRCm39 Ensembl1774,323,950 - 74,354,911 (-)Ensembl
GRCm381774,014,891 - 74,047,860 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1774,016,955 - 74,047,916 (-)EnsemblGRCm38mm10GRCm38
MGSCv371774,367,046 - 74,397,256 (-)NCBIGRCm37mm9NCBIm37
MGSCv361773,922,606 - 73,952,814 (-)NCBImm8
Celera1778,309,438 - 78,339,442 (-)NCBICelera
Cytogenetic Map17E2NCBI
Srd5a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2621,426,225 - 21,465,727 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl625,279,626 - 25,315,511 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0625,279,635 - 25,315,501 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0635,127,532 - 35,163,398 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4621,453,521 - 21,489,408 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1621,456,473 - 21,492,397 (+)NCBI
Celera620,976,906 - 21,012,848 (+)NCBICelera
Cytogenetic Map6q14NCBI
Srd5a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544110,443 - 95,743 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544112,149 - 95,733 (-)NCBIChiLan1.0ChiLan1.0
SRD5A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A31,610,487 - 31,665,718 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A31,610,487 - 31,665,718 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A31,542,646 - 31,597,394 (-)NCBIMhudiblu_PPA_v0panPan3
SRD5A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11725,017,113 - 25,056,156 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1725,017,113 - 25,056,544 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1724,811,155 - 24,850,233 (-)NCBI
ROS_Cfam_1.01725,580,015 - 25,620,097 (-)NCBI
UMICH_Zoey_3.11724,887,475 - 24,926,628 (-)NCBI
UNSW_CanFamBas_1.01724,946,476 - 24,985,654 (-)NCBI
UU_Cfam_GSD_1.01725,049,043 - 25,087,911 (-)NCBI
Srd5a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629269,130,023 - 69,175,570 (-)NCBI
SpeTri2.0NW_0049364931,663,999 - 1,708,530 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SRD5A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3107,839,964 - 107,918,350 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13107,840,200 - 107,918,351 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23114,644,279 - 114,657,350 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SRD5A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11475,915,495 - 75,971,280 (+)NCBI
ChlSab1.1 Ensembl1475,917,260 - 75,970,365 (+)Ensembl
Vero_WHO_p1.0NW_02366604536,088,943 - 36,288,753 (-)NCBI
Srd5a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473813,254,998 - 13,321,360 (-)NCBI

Position Markers
GDB:197081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,751,132 - 31,751,229UniSTSGRCh37
Build 36231,604,636 - 31,604,733RGDNCBI36
Celera231,592,360 - 31,592,457RGD
Cytogenetic Map2p23UniSTS
HuRef231,487,113 - 31,487,228UniSTS
STS-M74047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,751,059 - 31,751,261UniSTSGRCh37
Build 36231,604,563 - 31,604,765RGDNCBI36
Celera231,592,287 - 31,592,489RGD
Cytogenetic Map2p23UniSTS
HuRef231,487,040 - 31,487,260UniSTS
NCBI RH Map2212.8UniSTS
SRD5A2_256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,749,651 - 31,750,485UniSTSGRCh37
Build 36231,603,155 - 31,603,989RGDNCBI36
Celera231,590,879 - 31,591,713RGD
HuRef231,485,632 - 31,486,466UniSTS
WI-9246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,751,027 - 31,751,131UniSTSGRCh37
Build 36231,604,531 - 31,604,635RGDNCBI36
Celera231,592,255 - 31,592,359RGD
Cytogenetic Map2p23UniSTS
HuRef231,487,008 - 31,487,112UniSTS
G10662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,750,967 - 31,751,224UniSTSGRCh37
Build 36231,604,471 - 31,604,728RGDNCBI36
Celera231,592,195 - 31,592,452RGD
Cytogenetic Map2p23UniSTS
HuRef231,486,948 - 31,487,223UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:336
Count of miRNA genes:308
Interacting mature miRNAs:323
Transcripts:ENST00000233139, ENST00000405650
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 127 127 127 1 241 10
Low 6 9 141 111 12 110 81 36 53 14 548 209 2 35 39
Below cutoff 1386 1404 920 172 720 20 3298 1461 2736 125 341 846 157 911 2157 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB047857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AEKP01018982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY884245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF560740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L03843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000622030   ⟹   ENSP00000477587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl231,522,480 - 31,580,938 (-)Ensembl
RefSeq Acc Id: NM_000348   ⟹   NP_000339
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38231,522,480 - 31,580,938 (-)NCBI
GRCh37231,749,656 - 31,806,040 (-)ENTREZGENE
Build 36231,603,160 - 31,659,544 (-)NCBI Archive
HuRef231,485,637 - 31,542,001 (-)ENTREZGENE
CHM1_1231,678,089 - 31,734,473 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533069   ⟹   XP_011531371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38231,522,486 - 31,559,519 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533072   ⟹   XP_011531374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38231,522,486 - 31,665,651 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000339   ⟸   NM_000348
- UniProtKB: P31213 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011531374   ⟸   XM_011533072
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011531371   ⟸   XM_011533069
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000477587   ⟸   ENST00000622030

Promoters
RGD ID:6860038
Promoter ID:EPDNEW_H3182
Type:initiation region
Name:SRD5A2_1
Description:steroid 5 alpha-reductase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3183  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38231,580,936 - 31,580,996EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000529458] Chr2:31526257 [GRCh38]
Chr2:31751327 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000527644] Chr2:31529411 [GRCh38]
Chr2:31754481 [GRCh37]
Chr2:2p23.1
benign
NC_000002.12:g.(?_31524586)_(31580971_?)del deletion 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003500] Chr2:31524586..31580971 [GRCh38]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.468_470del (p.Met157del) deletion 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003502] Chr2:31531448..31531450 [GRCh38]
Chr2:31756518..31756520 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.753del (p.Phe252fs) deletion 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003507] Chr2:31526208 [GRCh38]
Chr2:31751278 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003501] Chr2:31526225 [GRCh38]
Chr2:31751295 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003503]|not provided [RCV001269601] Chr2:31580737 [GRCh38]
Chr2:31805807 [GRCh37]
Chr2:2p23.1
pathogenic|likely pathogenic
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003504] Chr2:31533704 [GRCh38]
Chr2:31758774 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003505] Chr2:31531371 [GRCh38]
Chr2:31756441 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003506] Chr2:31529326 [GRCh38]
Chr2:31754396 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003508]|not provided [RCV001270015] Chr2:31529323 [GRCh38]
Chr2:31754393 [GRCh37]
Chr2:2p23.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003509]|not provided [RCV001269804] Chr2:31529419 [GRCh38]
Chr2:31754489 [GRCh37]
Chr2:2p23.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003510] Chr2:31529313 [GRCh38]
Chr2:31754383 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000531645]|STEROID 5-ALPHA-REDUCTASE POLYMORPHISM [RCV000003511]|not provided [RCV000083640] Chr2:31580756 [GRCh38]
Chr2:31805826 [GRCh37]
Chr2:2p23.1
benign|conflicting interpretations of pathogenicity|not provided
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003512] Chr2:31529370 [GRCh38]
Chr2:31754440 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000003513] Chr2:31529414 [GRCh38]
Chr2:31754484 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.78C>G (p.Tyr26Ter) single nucleotide variant Micropenis [RCV000003514] Chr2:31580823 [GRCh38]
Chr2:31805892 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000288398]|Micropenis [RCV000003515]|not provided [RCV000083663] Chr2:31529325 [GRCh38]
Chr2:31754395 [GRCh37]
Chr2:2p23.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p23.1-22.3(chr2:31368632-32087629)x1 copy number loss See cases [RCV000053980] Chr2:31368632..32087629 [GRCh38]
Chr2:31591498..32312698 [GRCh37]
Chr2:31445002..32166202 [NCBI36]
Chr2:2p23.1-22.3
pathogenic
GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1 copy number loss See cases [RCV000053981] Chr2:31370181..32512769 [GRCh38]
Chr2:31593047..32737836 [GRCh37]
Chr2:31446551..32591340 [NCBI36]
Chr2:2p23.1-22.3
pathogenic
NM_000348.3(SRD5A2):c.510C>T (p.Leu170=) single nucleotide variant Malignant melanoma [RCV000065566] Chr2:31531408 [GRCh38]
Chr2:31756478 [GRCh37]
Chr2:31609982 [NCBI36]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000634579]|not provided [RCV001270012] Chr2:31533741 [GRCh38]
Chr2:31758811 [GRCh37]
Chr2:31612315 [NCBI36]
Chr2:2p23.1
pathogenic|not provided
NM_000348.4(SRD5A2):c.218del (p.Leu73fs) deletion 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000660881] Chr2:31580683 [GRCh38]
Chr2:31805753 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.656del (p.Phe219fs) deletion not provided [RCV000083630] Chr2:31529349 [GRCh38]
Chr2:31754419 [GRCh37]
Chr2:2p23.1
pathogenic|not provided
NM_000348.3(SRD5A2):c.-62G>C single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000359892]|not provided [RCV000083635] Chr2:31580962 [GRCh38]
Chr2:31806031 [GRCh37]
Chr2:2p23.1
benign|not provided
NM_000348.4(SRD5A2):c.-2C>A single nucleotide variant not provided [RCV000083636] Chr2:31580902 [GRCh38]
Chr2:31805971 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.13T>C (p.Cys5Arg) single nucleotide variant not provided [RCV000083637] Chr2:31580888 [GRCh38]
Chr2:31805957 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.89_90insT (p.Ser31fs) insertion not provided [RCV000083638] Chr2:31580811..31580812 [GRCh38]
Chr2:31805879..31805880 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.143C>G (p.Pro48Arg) single nucleotide variant not provided [RCV000083639] Chr2:31580758 [GRCh38]
Chr2:31805828 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.151G>A (p.Ala51Thr) single nucleotide variant not provided [RCV000083641] Chr2:31580750 [GRCh38]
Chr2:31805820 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.162C>T (p.Phe54=) single nucleotide variant not provided [RCV000083642] Chr2:31580739 [GRCh38]
Chr2:31805809 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.445+8A>C single nucleotide variant not provided [RCV000083643] Chr2:31533595 [GRCh38]
Chr2:31758665 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.183C>T (p.Phe61=) single nucleotide variant not provided [RCV000083644] Chr2:31580718 [GRCh38]
Chr2:31805788 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.207C>T (p.Ala69=) single nucleotide variant not provided [RCV000083645] Chr2:31580694 [GRCh38]
Chr2:31805764 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.209G>A (p.Arg70Gln) single nucleotide variant not provided [RCV000083646] Chr2:31580692 [GRCh38]
Chr2:31805762 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.210G>A (p.Arg70=) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001453334]|not provided [RCV000083647] Chr2:31580691 [GRCh38]
Chr2:31805761 [GRCh37]
Chr2:2p23.1
likely benign|not provided
NM_000348.4(SRD5A2):c.214C>T (p.Pro72Ser) single nucleotide variant not provided [RCV000083648] Chr2:31580687 [GRCh38]
Chr2:31805757 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.258C>G (p.Leu86=) single nucleotide variant not provided [RCV000083649] Chr2:31580643 [GRCh38]
Chr2:31805713 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001516898]|not provided [RCV000083650]|not specified [RCV000250955] Chr2:31580636 [GRCh38]
Chr2:31805706 [GRCh37]
Chr2:2p23.1
benign|not provided
NM_000348.4(SRD5A2):c.273C>T (p.Tyr91=) single nucleotide variant not provided [RCV000083651] Chr2:31580628 [GRCh38]
Chr2:31805698 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.281+13C>G single nucleotide variant not provided [RCV000083652] Chr2:31580607 [GRCh38]
Chr2:31805677 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.281+15T>C single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001516897]|not provided [RCV000083653]|not specified [RCV000254308] Chr2:31580605 [GRCh38]
Chr2:31805675 [GRCh37]
Chr2:2p23.1
benign|not provided
NM_000348.4(SRD5A2):c.281+20G>A single nucleotide variant not provided [RCV000083654] Chr2:31580600 [GRCh38]
Chr2:31805670 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.281+23G>T single nucleotide variant not provided [RCV000083655] Chr2:31580597 [GRCh38]
Chr2:31805667 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.281+37A>C single nucleotide variant not provided [RCV000083656] Chr2:31580583 [GRCh38]
Chr2:31805653 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.446-43A>T single nucleotide variant not provided [RCV000083657] Chr2:31531515 [GRCh38]
Chr2:31756585 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.548-2A>C single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000686310]|not provided [RCV000083658] Chr2:31529459 [GRCh38]
Chr2:31754529 [GRCh37]
Chr2:2p23.1
likely pathogenic|not provided
NM_000348.4(SRD5A2):c.550G>C (p.Gly184Arg) single nucleotide variant not provided [RCV000083659] Chr2:31529455 [GRCh38]
Chr2:31754525 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.560C>T (p.Thr187Met) single nucleotide variant not provided [RCV000083660] Chr2:31529445 [GRCh38]
Chr2:31754515 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.582C>G (p.Phe194Leu) single nucleotide variant not provided [RCV000083661] Chr2:31529423 [GRCh38]
Chr2:31754493 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.585C>T (p.Leu195=) single nucleotide variant not provided [RCV000083662] Chr2:31529420 [GRCh38]
Chr2:31754490 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.696T>C (p.His232=) single nucleotide variant not provided [RCV000083664] Chr2:31529309 [GRCh38]
Chr2:31754379 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001088179]|not provided [RCV000083665] Chr2:31526259 [GRCh38]
Chr2:31751329 [GRCh37]
Chr2:2p23.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000348.4(SRD5A2):c.*259T>C single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138518]|not provided [RCV000083666] Chr2:31525937 [GRCh38]
Chr2:31751007 [GRCh37]
Chr2:2p23.1
benign|not provided
NM_000348.4(SRD5A2):c.*821A>T single nucleotide variant not provided [RCV000083667] Chr2:31525375 [GRCh38]
Chr2:31750445 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.*849A>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000365985]|not provided [RCV000083668] Chr2:31525347 [GRCh38]
Chr2:31750417 [GRCh37]
Chr2:2p23.1
benign|likely benign|not provided
NM_000348.4(SRD5A2):c.*1356A>C single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000297080]|not provided [RCV000083669] Chr2:31524840 [GRCh38]
Chr2:31749910 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance|not provided
NM_000348.4(SRD5A2):c.*1552G>A single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000392570]|not provided [RCV000083670] Chr2:31524644 [GRCh38]
Chr2:31749714 [GRCh37]
Chr2:2p23.1
benign|not provided
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
NM_000348.3(SRD5A2):c.-650A>C single nucleotide variant not provided [RCV000083631] Chr2:31581550 [GRCh38]
Chr2:31806619 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.3(SRD5A2):c.-648A>T single nucleotide variant not provided [RCV000083632] Chr2:31581548 [GRCh38]
Chr2:31806617 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.3(SRD5A2):c.-383G>A single nucleotide variant not provided [RCV000083633] Chr2:31581283 [GRCh38]
Chr2:31806352 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.3(SRD5A2):c.-215C>A single nucleotide variant not provided [RCV000083634] Chr2:31581115 [GRCh38]
Chr2:31806184 [GRCh37]
Chr2:2p23.1
not provided
NM_000348.4(SRD5A2):c.*1843A>G single nucleotide variant not provided [RCV000083671] Chr2:31524353 [GRCh38]
Chr2:31749423 [GRCh37]
Chr2:2p23.1
not provided
NC_000002.12:g.31627646C>T single nucleotide variant Lung cancer [RCV000092006] Chr2:31627646 [GRCh38]
Chr2:31852715 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000254818] Chr2:31580899 [GRCh38]
Chr2:31805968 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000546486] Chr2:31526224 [GRCh38]
Chr2:31751294 [GRCh37]
Chr2:2p23.1
pathogenic
inv(2)(p21p23.2) inversion Endometrial carcinoma [RCV000659263] Chr2:29447680..42554394 [GRCh37]
Chr2:2p23.2-21
likely pathogenic
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000548299] Chr2:31529382 [GRCh38]
Chr2:31754452 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.264C>G (p.Cys88Trp) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000280741] Chr2:31580637 [GRCh38]
Chr2:31805707 [GRCh37]
Chr2:2p23.1
benign
NM_000348.4(SRD5A2):c.*91C>T single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000334803] Chr2:31526105 [GRCh38]
Chr2:31751175 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000348.4(SRD5A2):c.*1290C>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000354324] Chr2:31524906 [GRCh38]
Chr2:31749976 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*88T>A single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000400378] Chr2:31526108 [GRCh38]
Chr2:31751178 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000348.3(SRD5A2):c.-55G>A single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000305170] Chr2:31580955 [GRCh38]
Chr2:31806024 [GRCh37]
Chr2:2p23.1
benign|uncertain significance
NM_000348.4(SRD5A2):c.*224A>T single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000292787] Chr2:31525972 [GRCh38]
Chr2:31751042 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000348.4(SRD5A2):c.*1056G>C single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000327630] Chr2:31525140 [GRCh38]
Chr2:31750210 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000348.4(SRD5A2):c.*1273A>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000392562] Chr2:31524923 [GRCh38]
Chr2:31749993 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000348.4(SRD5A2):c.*686G>T single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000272898] Chr2:31525510 [GRCh38]
Chr2:31750580 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*1151_*1152dup duplication 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000305311] Chr2:31525043..31525044 [GRCh38]
Chr2:31750113..31750114 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*1133A>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000265483] Chr2:31525063 [GRCh38]
Chr2:31750133 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) duplication 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000401233] Chr2:31580810..31580811 [GRCh38]
Chr2:31805880..31805881 [GRCh37]
Chr2:2p23.1
benign
NM_000348.4(SRD5A2):c.*88_*91delinsACCTATATATATATATATATATAT indel 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000279779] Chr2:31526105..31526108 [GRCh38]
Chr2:31751175..31751178 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATAT indel 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000333647] Chr2:31526105..31526106 [GRCh38]
Chr2:31751175..31751176 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*286A>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000387092] Chr2:31525910 [GRCh38]
Chr2:31750980 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATATAT indel 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000388184] Chr2:31526105..31526106 [GRCh38]
Chr2:31751175..31751176 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.3(SRD5A2):c.-64A>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000392050] Chr2:31580964 [GRCh38]
Chr2:31806033 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000553178] Chr2:31529310 [GRCh38]
Chr2:31754380 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.230G>A (p.Gly77Glu) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000340428] Chr2:31580671 [GRCh38]
Chr2:31805741 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*1152del deletion 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000357843] Chr2:31525044 [GRCh38]
Chr2:31750114 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*614T>A single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000327922] Chr2:31525582 [GRCh38]
Chr2:31750652 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000582093] Chr2:31580732 [GRCh38]
Chr2:31805802 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.446-10_446-8del microsatellite 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000583822] Chr2:31531480..31531482 [GRCh38]
Chr2:31756550..31756552 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000582682] Chr2:31580630 [GRCh38]
Chr2:31805700 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.537G>A (p.Arg179=) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000582721] Chr2:31531381 [GRCh38]
Chr2:31756451 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*43G>A single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000582814] Chr2:31526153 [GRCh38]
Chr2:31751223 [GRCh37]
Chr2:2p23.1
benign|uncertain significance
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000582995] Chr2:31529407 [GRCh38]
Chr2:31754477 [GRCh37]
Chr2:2p23.1
pathogenic|uncertain significance
NM_000348.4(SRD5A2):c.548-5C>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000583325] Chr2:31529462 [GRCh38]
Chr2:31754532 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*510T>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138513] Chr2:31525686 [GRCh38]
Chr2:31750756 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*307A>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138516] Chr2:31525889 [GRCh38]
Chr2:31750959 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*278C>T single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138517] Chr2:31525918 [GRCh38]
Chr2:31750988 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.271T>G (p.Tyr91Asp) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000581450] Chr2:31580630 [GRCh38]
Chr2:31805700 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.548-13C>T single nucleotide variant not specified [RCV000604584] Chr2:31529470 [GRCh38]
Chr2:31754540 [GRCh37]
Chr2:2p23.1
likely benign
NM_000348.4(SRD5A2):c.548-9T>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000581602] Chr2:31529466 [GRCh38]
Chr2:31754536 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.282-2A>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000583485] Chr2:31533768 [GRCh38]
Chr2:31758838 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000583658] Chr2:31580842 [GRCh38]
Chr2:31805911 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000581936] Chr2:31531384 [GRCh38]
Chr2:31756454 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000583779] Chr2:31580696 [GRCh38]
Chr2:31805766 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.100G>A (p.Gly34Arg) single nucleotide variant not provided [RCV000414643] Chr2:31580801 [GRCh38]
Chr2:31805871 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001519907]|not provided [RCV000537388] Chr2:31533711 [GRCh38]
Chr2:31758781 [GRCh37]
Chr2:2p23.1
benign
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000557983] Chr2:31533663 [GRCh38]
Chr2:31758733 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000535535] Chr2:31529398 [GRCh38]
Chr2:31754468 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000545602]|not provided [RCV000413020] Chr2:31533671 [GRCh38]
Chr2:31758741 [GRCh37]
Chr2:2p23.1
pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
NM_000348.4(SRD5A2):c.542C>T (p.Pro181Leu) single nucleotide variant not provided [RCV000413891] Chr2:31531376 [GRCh38]
Chr2:31756446 [GRCh37]
Chr2:2p23.1
pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p23.1(chr2:31750429-31805671)x1 copy number loss See cases [RCV000447281] Chr2:31750429..31805671 [GRCh37]
Chr2:2p23.1
likely benign
GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3 copy number gain See cases [RCV000447397] Chr2:28069882..43543420 [GRCh37]
Chr2:2p23.2-21
pathogenic
NC_000002.11:g.31757164_31770106del12943insCA indel 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000681614] Chr2:31532094..31545036 [GRCh38]
Chr2:31757164..31770106 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000469192] Chr2:31580690 [GRCh38]
Chr2:31805760 [GRCh37]
Chr2:2p23.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000348.4(SRD5A2):c.734C>A (p.Ser245Tyr) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001446958]|not provided [RCV000873320]|not specified [RCV000499604] Chr2:31526227 [GRCh38]
Chr2:31751297 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000500379]|not provided [RCV000578706] Chr2:31580885 [GRCh38]
Chr2:31805954 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000508957] Chr2:31526236 [GRCh38]
Chr2:31751306 [GRCh37]
Chr2:2p23.1
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000634581] Chr2:31529385 [GRCh38]
Chr2:31754455 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000534325]|not provided [RCV001269600] Chr2:31529427 [GRCh38]
Chr2:31754497 [GRCh37]
Chr2:2p23.1
pathogenic|likely pathogenic
t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394) inversion Small cell lung carcinoma [RCV000576833] Chr2:29446394..42552694 [GRCh37]
Chr2:2p23.2-21
pathogenic
NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000540681] Chr2:31529322 [GRCh38]
Chr2:31754392 [GRCh37]
Chr2:2p23.1
likely pathogenic
NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000664299] Chr2:31529451 [GRCh38]
Chr2:31754521 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.729del (p.Lys244fs) deletion 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000664298] Chr2:31526232 [GRCh38]
Chr2:31751302 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.586G>C (p.Gly196Arg) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000660891] Chr2:31529419 [GRCh38]
Chr2:31754489 [GRCh37]
Chr2:2p23.1
pathogenic
GRCh37/hg19 2p23.2-22.3(chr2:29240004-32380876)x1 copy number loss not provided [RCV000682149] Chr2:29240004..32380876 [GRCh37]
Chr2:2p23.2-22.3
pathogenic
NM_000348.4(SRD5A2):c.143C>T (p.Pro48Leu) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000695133] Chr2:31580758 [GRCh38]
Chr2:31805828 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000706218] Chr2:31533690 [GRCh38]
Chr2:31758760 [GRCh37]
Chr2:2p23.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p23.1(chr2:31605411-31811268)x3 copy number gain not provided [RCV000752885] Chr2:31605411..31811268 [GRCh37]
Chr2:2p23.1
benign
GRCh37/hg19 2p23.1(chr2:31729141-31871583)x1 copy number loss not provided [RCV000752887] Chr2:31729141..31871583 [GRCh37]
Chr2:2p23.1
likely benign
GRCh37/hg19 2p23.1(chr2:31585435-32092257)x1 copy number loss not provided [RCV000752884] Chr2:31585435..32092257 [GRCh37]
Chr2:2p23.1
benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p23.1(chr2:31729141-31870697)x1 copy number loss not provided [RCV000752886] Chr2:31729141..31870697 [GRCh37]
Chr2:2p23.1
benign
NM_000348.4(SRD5A2):c.100G>C (p.Gly34Arg) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001030762] Chr2:31580801 [GRCh38]
Chr2:31805871 [GRCh37]
Chr2:2p23.1
pathogenic
GRCh37/hg19 2p23.1(chr2:31758677-31805700) copy number loss 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000767681] Chr2:31758677..31805700 [GRCh37]
Chr2:2p23.1
pathogenic
NC_000002.11:g.(?_31751246)_(31805989_?)dup duplication 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001033826] Chr2:31751246..31805989 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.502C>T (p.Arg168Cys) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001509623]|not provided [RCV000954337] Chr2:31531416 [GRCh38]
Chr2:31756486 [GRCh37]
Chr2:2p23.1
benign
GRCh37/hg19 2p23.1(chr2:31281703-31789508)x1 copy number loss not provided [RCV000848596] Chr2:31281703..31789508 [GRCh37]
Chr2:2p23.1
uncertain significance
GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1 copy number loss not provided [RCV000848001] Chr2:29940473..36813297 [GRCh37]
Chr2:2p23.2-22.2
pathogenic
NM_000348.4(SRD5A2):c.*981G>A single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138087] Chr2:31525215 [GRCh38]
Chr2:31750285 [GRCh37]
Chr2:2p23.1
likely benign
NC_000002.12:g.(?_31531351)_(31531492_?)del deletion 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV000801992] Chr2:31531351..31531492 [GRCh38]
Chr2:31756421..31756562 [GRCh37]
Chr2:2p23.1
likely pathogenic
NM_000348.4(SRD5A2):c.*672T>A single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138088] Chr2:31525524 [GRCh38]
Chr2:31750594 [GRCh37]
Chr2:2p23.1
uncertain significance
NC_000002.11:g.(?_31558804)_(32481864_?)dup duplication Autoinflammation with infantile enterocolitis [RCV001031927] Chr2:31558804..32481864 [GRCh37]
Chr2:2p23.1-22.3
uncertain significance
GRCh37/hg19 2p23.1(chr2:31601561-31845670)x3 copy number gain not provided [RCV000848896] Chr2:31601561..31845670 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.384C>G (p.Tyr128Ter) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001175241] Chr2:31533664 [GRCh38]
Chr2:31758734 [GRCh37]
Chr2:2p23.1
likely pathogenic
NM_000348.4(SRD5A2):c.317del (p.Pro106fs) deletion 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001249654] Chr2:31533731 [GRCh38]
Chr2:31758801 [GRCh37]
Chr2:2p23.1
likely pathogenic
NM_000348.4(SRD5A2):c.95G>T (p.Gly32Val) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001511581]|not provided [RCV000924186] Chr2:31580806 [GRCh38]
Chr2:31805876 [GRCh37]
Chr2:2p23.1
benign
NM_000348.4(SRD5A2):c.*572C>T single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138512] Chr2:31525624 [GRCh38]
Chr2:31750694 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*1492A>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001142829] Chr2:31524704 [GRCh38]
Chr2:31749774 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*1440T>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001142830] Chr2:31524756 [GRCh38]
Chr2:31749826 [GRCh37]
Chr2:2p23.1
uncertain significance
GRCh37/hg19 2p23.1(chr2:31801038-31880861)x1 copy number loss not provided [RCV001005241] Chr2:31801038..31880861 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*1422G>A single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001142831] Chr2:31524774 [GRCh38]
Chr2:31749844 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*1384A>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001142832] Chr2:31524812 [GRCh38]
Chr2:31749882 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*1290C>A single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001142833] Chr2:31524906 [GRCh38]
Chr2:31749976 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*372G>A single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138515] Chr2:31525824 [GRCh38]
Chr2:31750894 [GRCh37]
Chr2:2p23.1
benign
NM_000348.4(SRD5A2):c.*1504A>T single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001142828] Chr2:31524692 [GRCh38]
Chr2:31749762 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*392A>C single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138514] Chr2:31525804 [GRCh38]
Chr2:31750874 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.485A>C (p.His162Pro) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001249472] Chr2:31531433 [GRCh38]
Chr2:31756503 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.-20C>T single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138196] Chr2:31580920 [GRCh38]
Chr2:31805989 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*1242A>G single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001138086] Chr2:31524954 [GRCh38]
Chr2:31750024 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*120G>A single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001141079] Chr2:31526076 [GRCh38]
Chr2:31751146 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.*119C>T single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001141080] Chr2:31526077 [GRCh38]
Chr2:31751147 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.321T>A (p.Tyr107Ter) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001268947] Chr2:31533727 [GRCh38]
Chr2:31758797 [GRCh37]
Chr2:2p23.1
likely pathogenic
NM_000348.4(SRD5A2):c.164T>C (p.Leu55Pro) single nucleotide variant not provided [RCV001270011] Chr2:31580737 [GRCh38]
Chr2:31805807 [GRCh37]
Chr2:2p23.1
likely pathogenic
NC_000002.11:g.(?_31751246)_(31805989_?)dup duplication 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001322290] Chr2:31751246..31805989 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000348.4(SRD5A2):c.193G>C (p.Ala65Pro) single nucleotide variant not provided [RCV001269740] Chr2:31580708 [GRCh38]
Chr2:31805778 [GRCh37]
Chr2:2p23.1
likely pathogenic
NM_000348.4(SRD5A2):c.81_94del (p.Ala28fs) deletion not provided [RCV001269576] Chr2:31580807..31580820 [GRCh38]
Chr2:31805877..31805889 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000348.4(SRD5A2):c.111G>A (p.Thr37=) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001494408] Chr2:31580790 [GRCh38]
Chr2:31805860 [GRCh37]
Chr2:2p23.1
likely benign
NM_000348.4(SRD5A2):c.441C>T (p.Ser147=) single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001518885] Chr2:31533607 [GRCh38]
Chr2:31758677 [GRCh37]
Chr2:2p23.1
benign
NM_000348.4(SRD5A2):c.548-4G>A single nucleotide variant 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [RCV001505415] Chr2:31529461 [GRCh38]
Chr2:31754531 [GRCh37]
Chr2:2p23.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11285 AgrOrtholog
COSMIC SRD5A2 COSMIC
Ensembl Genes ENSG00000277893 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000477587 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000622030 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000277893 GTEx
HGNC ID HGNC:11285 ENTREZGENE
Human Proteome Map SRD5A2 Human Proteome Map
InterPro 3-oxo-5-alpha-steroid_4-DH UniProtKB/Swiss-Prot
  3-oxo-5_a-steroid_4-DH_C UniProtKB/Swiss-Prot
  SRD5A/TECR UniProtKB/Swiss-Prot
KEGG Report hsa:6716 UniProtKB/Swiss-Prot
NCBI Gene 6716 ENTREZGENE
OMIM 264600 OMIM
  607306 OMIM
PANTHER PTHR10556 UniProtKB/Swiss-Prot
Pfam Steroid_dh UniProtKB/Swiss-Prot
PharmGKB PA36113 PharmGKB
PIRSF 5_alpha-SR2 UniProtKB/Swiss-Prot
PROSITE S5A_REDUCTASE UniProtKB/Swiss-Prot
UniProt P31213 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RE87 UniProtKB/Swiss-Prot
  Q2M1R4 UniProtKB/Swiss-Prot
  Q9BYE6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 SRD5A2  steroid 5 alpha-reductase 2    steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)  Symbol and/or name change 5135510 APPROVED
2011-08-16 SRD5A2  steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)  SRD5A2  steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)  Symbol and/or name change 5135510 APPROVED