NR5A1 (nuclear receptor subfamily 5 group A member 1) - Rat Genome Database

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Gene: NR5A1 (nuclear receptor subfamily 5 group A member 1) Homo sapiens
Analyze
Symbol: NR5A1
Name: nuclear receptor subfamily 5 group A member 1
RGD ID: 68493
HGNC Page HGNC
Description: Exhibits several functions, including RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; nuclear receptor activity; and phospholipid binding activity. Involved in several processes, including gonad development; positive regulation of macromolecule metabolic process; and positive regulation of male gonad development. Localizes to cytosol and nucleoplasm. Implicated in 46,XX sex reversal 4; 46,XY sex reversal 3; Zellweger syndrome; primary ovarian insufficiency; and spermatogenic failure 8.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AD4BP; adrenal 4 binding protein; adrenal 4-binding protein; ELP; FTZ1; FTZF1; fushi tarazu factor homolog 1; hSF-1; nuclear receptor AdBP4; nuclear receptor subfamily 5, group A, member 1; POF7; SF-1; SF1; SPGF8; SRXX4; SRXY3; steroid hormone receptor Ad4BP; steroidogenic factor 1; steroidogenic factor 1 nuclear receptor; steroidogenic factor-1; STF-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: SF1 (Gene ID: 7536) and NR5A1 (Gene ID: 2516) share the SF1 symbol/alias in common. SF1 is a widely used alternative name for nuclear receptor subfamily 5 group A member 1 (NR5A1), which can be confused with the official symbol for SF1 (splicing factor 1). [01 Jun 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9124,481,236 - 124,507,420 (-)EnsemblGRCh38hg38GRCh38
GRCh389124,481,236 - 124,507,399 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379127,243,515 - 127,269,678 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369126,283,336 - 126,309,520 (-)NCBINCBI36hg18NCBI36
Build 349124,323,069 - 124,349,253NCBI
Celera997,890,732 - 97,916,915 (-)NCBI
Cytogenetic Map9q33.3NCBI
HuRef996,856,059 - 96,882,213 (-)NCBIHuRef
CHM1_19127,392,508 - 127,418,653 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(25R)-cholest-5-ene-3beta,26-diol  (EXP)
(S)-nicotine  (EXP,ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
20-hydroxycholesterol  (ISO)
22-Hydroxycholesterol  (EXP)
25-hydroxycholesterol  (EXP)
26-hydroxycholesterol  (EXP)
5-aza-2'-deoxycytidine  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
ammonium chloride  (ISO)
atrazine  (EXP,ISO)
bafilomycin A1  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bucladesine  (EXP,ISO)
Butylparaben  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
chromium(6+)  (ISO)
colforsin daropate hydrochloride  (EXP)
crocidolite asbestos  (ISO)
daidzein  (ISO)
daidzein 7-O-beta-D-glucoside  (ISO)
decabromodiphenyl ether  (EXP,ISO)
deoxynivalenol  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
endosulfan  (ISO)
ethanol  (EXP,ISO)
fenitrothion  (ISO)
genistein  (ISO)
genistein 7-O-beta-D-glucoside  (ISO)
glycitein  (ISO)
glycitin  (ISO)
icariin  (ISO)
imidacloprid  (ISO)
L-ascorbic acid  (ISO)
methapyrilene  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
nicotine  (EXP,ISO)
phorbol 13-acetate 12-myristate  (ISO)
proanthocyanidin  (EXP)
progesterone  (EXP,ISO)
prostaglandin E2  (EXP)
pyruvic acid  (EXP)
quercetin  (ISO)
simazine  (EXP)
sirolimus  (EXP)
T-2 toxin  (EXP)
tamoxifen  (EXP)
testosterone  (ISO)
testosterone enanthate  (ISO)
Tetrachlorobisphenol A  (EXP)
trichostatin A  (EXP)
trimethyltin  (ISO)
triphenylstannane  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
wortmannin  (EXP)
zearalenone  (ISO)
zinc oxide  (ISO)
ziram  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal labia morphology  (IAGP)
Abnormal scrotal rugation  (IAGP)
Abnormal sex determination  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of male internal genitalia  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of the scrotum  (IAGP)
Abnormality of the uterus  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Absent pubic hair  (IAGP)
Adrenal insufficiency  (IAGP)
Ambiguous genitalia  (IAGP)
Aplasia/Hypoplasia of the breasts  (IAGP)
Aplasia/hypoplasia of the uterus  (IAGP)
Arachnodactyly  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Azoospermia  (IAGP)
Bifid scrotum  (IAGP)
Clitoral hypertrophy  (IAGP)
Cryptorchidism  (IAGP)
Cryptozoospermia  (IAGP)
Decreased fertility  (IAGP)
Decreased fertility in females  (IAGP)
Decreased serum estradiol  (IAGP)
Decreased serum testosterone level  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Elevated circulating follicle stimulating hormone level  (IAGP)
Elevated circulating luteinizing hormone level  (IAGP)
Exaggerated rugosity of the labia majora  (IAGP)
Female external genitalia in individual with 46,XY karyotype  (IAGP)
Gonadal dysgenesis  (IAGP)
Gynecomastia  (IAGP)
Hearing impairment  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hypoplasia of the vagina  (IAGP)
Hypospadias  (IAGP)
Incomplete penetrance  (IAGP)
Increased circulating gonadotropin level  (IAGP)
Male hypogonadism  (IAGP)
Male infertility  (IAGP)
Male pseudohermaphroditism  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Nephroblastoma  (IAGP)
Nephrotic syndrome  (IAGP)
Non-obstructive azoospermia  (IAGP)
Obstructive azoospermia  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Osteoporosis of vertebrae  (IAGP)
Ovarian gonadoblastoma  (IAGP)
Penoscrotal hypospadias  (IAGP)
Polycystic ovaries  (IAGP)
Premature ovarian insufficiency  (IAGP)
Primary amenorrhea  (IAGP)
Primary gonadal insufficiency  (IAGP)
Pulmonary fibrosis  (IAGP)
Scrotal hypoplasia  (IAGP)
Secondary amenorrhea  (IAGP)
Sex reversal  (IAGP)
Sex-limited autosomal dominant  (IAGP)
Short stature  (IAGP)
Sparse axillary hair  (IAGP)
Sparse pubic hair  (IAGP)
Streak ovary  (IAGP)
Testicular dysgenesis  (IAGP)
Testicular gonadoblastoma  (IAGP)
True hermaphroditism  (IAGP)
Urogenital sinus anomaly  (IAGP)
Vanishing testis  (IAGP)
References

Additional References at PubMed
PMID:7479914   PMID:7629233   PMID:7789992   PMID:8205615   PMID:8806624   PMID:8964846   PMID:9002548   PMID:9183568   PMID:9238716   PMID:9328345   PMID:9590178   PMID:9774680  
PMID:10230405   PMID:10369247   PMID:10369682   PMID:10446911   PMID:10478848   PMID:10567391   PMID:10628748   PMID:10684809   PMID:10848616   PMID:10919277   PMID:11038323   PMID:11071856  
PMID:11459805   PMID:11479297   PMID:11518799   PMID:11574675   PMID:11592817   PMID:11713202   PMID:11738790   PMID:11886523   PMID:11897684   PMID:11932209   PMID:12083805   PMID:12083815  
PMID:12101186   PMID:12161505   PMID:12477932   PMID:12554773   PMID:12651892   PMID:12727988   PMID:12730328   PMID:12732652   PMID:12782406   PMID:12843196   PMID:12907682   PMID:12917325  
PMID:12920234   PMID:14555713   PMID:14580722   PMID:14623279   PMID:14701856   PMID:14702039   PMID:14963109   PMID:15044589   PMID:15192080   PMID:15261303   PMID:15379426   PMID:15388788  
PMID:15471945   PMID:15472171   PMID:15489334   PMID:15546904   PMID:15579738   PMID:15579739   PMID:15666825   PMID:15707893   PMID:15831526   PMID:15879363   PMID:15897460   PMID:16002533  
PMID:16127213   PMID:16469813   PMID:16488887   PMID:16500365   PMID:16564598   PMID:16684822   PMID:16709599   PMID:16816804   PMID:16834661   PMID:16887917   PMID:17190602   PMID:17226773  
PMID:17331471   PMID:17474147   PMID:17488792   PMID:17519303   PMID:17520059   PMID:17664281   PMID:17694559   PMID:17761949   PMID:17786540   PMID:17901130   PMID:17940071   PMID:17975261  
PMID:18165439   PMID:18182853   PMID:18579725   PMID:18653709   PMID:18665078   PMID:18824868   PMID:18974272   PMID:18984668   PMID:19001523   PMID:19022561   PMID:19237537   PMID:19246354  
PMID:19274049   PMID:19322201   PMID:19439508   PMID:19490893   PMID:19549922   PMID:19692572   PMID:19849982   PMID:19875956   PMID:19878766   PMID:19930843   PMID:20026603   PMID:20045459  
PMID:20080844   PMID:20133449   PMID:20207836   PMID:20211142   PMID:20301714   PMID:20302644   PMID:20394914   PMID:20453312   PMID:20498720   PMID:20601698   PMID:20660055   PMID:20861607  
PMID:20875752   PMID:20887963   PMID:21078366   PMID:21081692   PMID:21087664   PMID:21111025   PMID:21129436   PMID:21163476   PMID:21163858   PMID:21164257   PMID:21220346   PMID:21239516  
PMID:21242195   PMID:21324456   PMID:21412441   PMID:21467194   PMID:21654157   PMID:21693691   PMID:21775434   PMID:21873635   PMID:21926385   PMID:22024498   PMID:22028768   PMID:22100173  
PMID:22218443   PMID:22427816   PMID:22474171   PMID:22549935   PMID:22553814   PMID:22715467   PMID:22832114   PMID:22907560   PMID:22927646   PMID:22951804   PMID:22987798   PMID:23044873  
PMID:23095176   PMID:23096908   PMID:23153500   PMID:23154282   PMID:23158211   PMID:23165333   PMID:23218904   PMID:23291911   PMID:23299922   PMID:23313103   PMID:23450049   PMID:23471216  
PMID:23537609   PMID:23543655   PMID:23610160   PMID:23637637   PMID:23650189   PMID:23729601   PMID:23899549   PMID:23918653   PMID:23969951   PMID:24012099   PMID:24067197   PMID:24076780  
PMID:24321386   PMID:24405868   PMID:24434652   PMID:24531914   PMID:24591553   PMID:24635384   PMID:24750329   PMID:24828505   PMID:24905461   PMID:25099250   PMID:25122490   PMID:25283508  
PMID:25288771   PMID:25416956   PMID:25502990   PMID:25604140   PMID:25896302   PMID:25910212   PMID:25985323   PMID:25989977   PMID:26139438   PMID:26200099   PMID:26260161   PMID:26352548  
PMID:26406169   PMID:26530052   PMID:27227698   PMID:27311867   PMID:27378692   PMID:27414805   PMID:27490115   PMID:27610946   PMID:27855412   PMID:27893151   PMID:28032338   PMID:28033660  
PMID:28225217   PMID:28270555   PMID:28319085   PMID:28473536   PMID:29027299   PMID:29027717   PMID:29151085   PMID:29265478   PMID:29402198   PMID:29582157   PMID:30018006   PMID:30067310  
PMID:30103258   PMID:30350900   PMID:30562606   PMID:30664326   PMID:30686519   PMID:30853179   PMID:31058195   PMID:31710289   PMID:31787151   PMID:32008008   PMID:32084386   PMID:32093223  
PMID:32296183   PMID:32738419  


Genomics

Comparative Map Data
NR5A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9124,481,236 - 124,507,420 (-)EnsemblGRCh38hg38GRCh38
GRCh389124,481,236 - 124,507,399 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379127,243,515 - 127,269,678 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369126,283,336 - 126,309,520 (-)NCBINCBI36hg18NCBI36
Build 349124,323,069 - 124,349,253NCBI
Celera997,890,732 - 97,916,915 (-)NCBI
Cytogenetic Map9q33.3NCBI
HuRef996,856,059 - 96,882,213 (-)NCBIHuRef
CHM1_19127,392,508 - 127,418,653 (-)NCBICHM1_1
Nr5a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39238,582,668 - 38,604,554 (-)NCBIGRCm39mm39
GRCm39 Ensembl238,582,668 - 38,604,554 (-)Ensembl
GRCm38238,692,656 - 38,714,542 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl238,692,656 - 38,714,542 (-)EnsemblGRCm38mm10GRCm38
MGSCv37238,548,180 - 38,570,062 (-)NCBIGRCm37mm9NCBIm37
MGSCv36238,514,636 - 38,536,512 (-)NCBImm8
Celera240,416,849 - 40,438,726 (-)NCBICelera
Cytogenetic Map2BNCBI
cM Map224.42NCBI
Nr5a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2322,464,786 - 22,486,328 (-)NCBI
Rnor_6.0 Ensembl322,999,616 - 23,020,441 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0322,998,900 - 23,020,441 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0328,223,427 - 28,244,968 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4318,498,913 - 18,519,738 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1318,395,933 - 18,412,441 (-)NCBI
Celera320,898,726 - 20,919,551 (-)NCBICelera
Cytogenetic Map3q12NCBI
Nr5a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554193,632,220 - 3,654,375 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554193,632,248 - 3,654,367 (+)NCBIChiLan1.0ChiLan1.0
NR5A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19124,122,968 - 124,149,292 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9124,122,968 - 124,149,292 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0995,605,282 - 95,628,773 (-)NCBIMhudiblu_PPA_v0panPan3
Nr5a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947192,970,909 - 193,007,215 (-)NCBI
SpeTri2.0NW_00493648712,739,445 - 12,763,729 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NR5A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1265,284,493 - 265,311,417 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11265,284,491 - 265,311,547 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21299,123,683 - 299,135,326 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap1q210-q211NCBI
NR5A1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11213,640,453 - 13,666,748 (+)NCBI
ChlSab1.1 Ensembl1213,640,473 - 13,666,863 (+)Ensembl
Nr5a1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476010,603,504 - 10,626,259 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1783
Count of miRNA genes:832
Interacting mature miRNAs:986
Transcripts:ENST00000373587, ENST00000373588, ENST00000455734
Prediction methods:Miranda, Rnahybrid, Targetscan
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 2 2 507 5 248 4 1 250 5 584 2 1 2
Low 30 39 54 5 108 5 122 18 134 12 67 42 23 28
Below cutoff 1696 1992 718 345 1176 229 2956 1332 2787 120 572 1060 122 766 1886 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000373587   ⟹   ENSP00000362689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9124,482,728 - 124,500,986 (-)Ensembl
RefSeq Acc Id: ENST00000373588   ⟹   ENSP00000362690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9124,481,236 - 124,507,399 (-)Ensembl
RefSeq Acc Id: ENST00000455734   ⟹   ENSP00000393245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9124,500,427 - 124,507,235 (-)Ensembl
RefSeq Acc Id: ENST00000620110   ⟹   ENSP00000483309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9124,481,236 - 124,507,420 (-)Ensembl
RefSeq Acc Id: NM_004959   ⟹   NP_004950
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389124,481,236 - 124,507,399 (-)NCBI
GRCh379127,243,515 - 127,269,769 (-)NCBI
Build 369126,283,336 - 126,309,520 (-)NCBI Archive
HuRef996,856,059 - 96,882,213 (-)ENTREZGENE
CHM1_19127,392,508 - 127,418,653 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004950   ⟸   NM_004959
- UniProtKB: Q13285 (UniProtKB/Swiss-Prot),   F1D8R8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000483309   ⟸   ENST00000620110
RefSeq Acc Id: ENSP00000362689   ⟸   ENST00000373587
RefSeq Acc Id: ENSP00000362690   ⟸   ENST00000373588
RefSeq Acc Id: ENSP00000393245   ⟸   ENST00000455734
Protein Domains
NR LBD   Nuclear receptor

Promoters
RGD ID:7216115
Promoter ID:EPDNEW_H13804
Type:initiation region
Name:NR5A1_1
Description:nuclear receptor subfamily 5 group A member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389124,507,436 - 124,507,496EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004959.5(NR5A1):c.236_238del (p.Arg79del) deletion Oligosynaptic infertility [RCV000532275] Chr9:124503085..124503087 [GRCh38]
Chr9:127265364..127265366 [GRCh37]
Chr9:9q33.3
uncertain significance
NR5A1, 8-BP DEL, NT1058 deletion 46,XY sex reversal, type 3 [RCV000013641] Chr9:9q33 pathogenic
NM_004959.5(NR5A1):c.18del (p.Asp6fs) deletion 46,XY sex reversal, type 3 [RCV000013643] Chr9:124503378 [GRCh38]
Chr9:127265657 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.666del (p.Asn222fs) deletion 46,XY sex reversal, type 3 [RCV000013648]|Premature ovarian failure 7 [RCV000013649] Chr9:124500294 [GRCh38]
Chr9:127262573 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.390del (p.Pro131fs) deletion 46,XY sex reversal, type 3 [RCV000013654]|Premature ovarian failure 7 [RCV000013655] Chr9:124500570 [GRCh38]
Chr9:127262849 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.682_690CTGCAGCTG[1] (p.228_230LQL[1]) microsatellite Premature ovarian failure 7 [RCV000013656] Chr9:124500261..124500269 [GRCh38]
Chr9:127262540..127262548 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.938G>A (p.Arg313His) single nucleotide variant not provided [RCV000521048] Chr9:124493082 [GRCh38]
Chr9:127255361 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.392C>T (p.Pro131Leu) single nucleotide variant Spermatogenic failure 8 [RCV000022776] Chr9:124500568 [GRCh38]
Chr9:127262847 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.634G>A (p.Gly212Ser) single nucleotide variant Spermatogenic failure 8 [RCV000022777] Chr9:124500326 [GRCh38]
Chr9:127262605 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu) indel 46,XY sex reversal, type 3 [RCV000013638] Chr9:124503218..124503219 [GRCh38]
Chr9:127265497..127265498 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.764G>T (p.Arg255Leu) single nucleotide variant ADRENAL INSUFFICIENCY, NR5A1-RELATED [RCV000013639] Chr9:124500196 [GRCh38]
Chr9:127262475 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) single nucleotide variant 46,XX sex reversal 4 [RCV000490544]|46,XY sex reversal, type 3 [RCV000013640]|ADRENAL INSUFFICIENCY, NR5A1-RELATED [RCV000490549] Chr9:124500685 [GRCh38]
Chr9:127262964 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter) single nucleotide variant 46,XY sex reversal, type 3 [RCV000013642] Chr9:124503348 [GRCh38]
Chr9:127265627 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.43G>A (p.Val15Met) single nucleotide variant 46,XY sex reversal, type 3 [RCV000013644] Chr9:124503353 [GRCh38]
Chr9:127265632 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.234G>A (p.Met78Ile) single nucleotide variant 46,XY sex reversal, type 3 [RCV000013645] Chr9:124503089 [GRCh38]
Chr9:127265368 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser) single nucleotide variant 46,XY sex reversal, type 3 [RCV000013646] Chr9:124500689 [GRCh38]
Chr9:127262968 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln) single nucleotide variant 46,XY sex reversal, type 3 [RCV000013647] Chr9:124482834 [GRCh38]
Chr9:127245113 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) single nucleotide variant 46,XY sex reversal, type 3 [RCV000013650]|Premature ovarian failure 7 [RCV000013651] Chr9:124493143 [GRCh38]
Chr9:127255422 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.3G>A (p.Met1Ile) single nucleotide variant 46,XY sex reversal, type 3 [RCV000013652]|Premature ovarian failure 7 [RCV000013653] Chr9:124503393 [GRCh38]
Chr9:127265672 [GRCh37]
Chr9:9q33.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
NC_000009.12:g.124476999G>A single nucleotide variant Malignant melanoma [RCV000068538] Chr9:124476999 [GRCh38]
Chr9:127239278 [GRCh37]
Chr9:126279099 [NCBI36]
Chr9:9q33.3
not provided
NM_004959.5(NR5A1):c.516C>T (p.Ala172=) single nucleotide variant Oligosynaptic infertility [RCV000552052]|not specified [RCV000127227] Chr9:124500444 [GRCh38]
Chr9:127262723 [GRCh37]
Chr9:9q33.3
benign
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) single nucleotide variant 46,XX sex reversal 4 [RCV000490553]|46,XY sex reversal, type 3 [RCV000256210] Chr9:124500686 [GRCh38]
Chr9:127262965 [GRCh37]
Chr9:9q33.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1 copy number loss See cases [RCV000141589] Chr9:123095598..126693843 [GRCh38]
Chr9:125857877..129456122 [GRCh37]
Chr9:124897698..128495943 [NCBI36]
Chr9:9q33.2-33.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_004959.5(NR5A1):c.151G>T (p.Glu51Ter) single nucleotide variant 46,XY sex reversal, type 3 [RCV000197157] Chr9:124503172 [GRCh38]
Chr9:127265451 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.1210T>G (p.Tyr404Asp) single nucleotide variant 46,XY sex reversal, type 3 [RCV000199384] Chr9:124482934 [GRCh38]
Chr9:127245213 [GRCh37]
Chr9:9q33.3
pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_004959.5(NR5A1):c.375G>A (p.Pro125=) single nucleotide variant Oligosynaptic infertility [RCV000541864]|not specified [RCV000246871] Chr9:124500585 [GRCh38]
Chr9:127262864 [GRCh37]
Chr9:9q33.3
benign
NM_004959.5(NR5A1):c.437G>C (p.Gly146Ala) single nucleotide variant not specified [RCV000251828] Chr9:124500523 [GRCh38]
Chr9:127262802 [GRCh37]
Chr9:9q33.3
benign
NM_004959.5(NR5A1):c.594G>A (p.Pro198=) single nucleotide variant Oligosynaptic infertility [RCV000872365]|not specified [RCV000605407] Chr9:124500366 [GRCh38]
Chr9:127262645 [GRCh37]
Chr9:9q33.3
benign
NM_004959.5(NR5A1):c.1266C>T (p.Cys422=) single nucleotide variant not provided [RCV000734703] Chr9:124482878 [GRCh38]
Chr9:127245157 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_004959.5(NR5A1):c.1180C>G (p.Gln394Glu) single nucleotide variant not specified [RCV000413729] Chr9:124482964 [GRCh38]
Chr9:127245243 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) single nucleotide variant 46,XY sex reversal, type 3 [RCV000504282]|Oligosynaptic infertility [RCV000701017]|not provided [RCV000413900] Chr9:124493083 [GRCh38]
Chr9:127255362 [GRCh37]
Chr9:9q33.3
pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3(chr9:127264913-127269352)x3 copy number gain See cases [RCV000446280] Chr9:127264913..127269352 [GRCh37]
Chr9:9q33.3
uncertain significance
GRCh37/hg19 9q33.3(chr9:127253558-127254078)x3 copy number gain See cases [RCV000446991] Chr9:127253558..127254078 [GRCh37]
Chr9:9q33.3
benign
NM_004959.5(NR5A1):c.225G>A (p.Thr75=) single nucleotide variant not specified [RCV000442153] Chr9:124503098 [GRCh38]
Chr9:127265377 [GRCh37]
Chr9:9q33.3
likely benign
NM_004959.5(NR5A1):c.1197C>T (p.Ala399=) single nucleotide variant not provided [RCV000907076]|not specified [RCV000435582] Chr9:124482947 [GRCh38]
Chr9:127245226 [GRCh37]
Chr9:9q33.3
likely benign
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
GRCh37/hg19 9q33.3(chr9:127269352-127294297)x3 copy number gain See cases [RCV000447908] Chr9:127269352..127294297 [GRCh37]
Chr9:9q33.3
likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_004959.5(NR5A1):c.1063_1083dup (p.Val355_Leu361dup) duplication not provided [RCV000480927] Chr9:124491135..124491136 [GRCh38]
Chr9:127253414..127253415 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_004959.5(NR5A1):c.835T>A (p.Trp279Arg) single nucleotide variant not provided [RCV000487101] Chr9:124500125 [GRCh38]
Chr9:127262404 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_004959.5(NR5A1):c.765C>T (p.Arg255=) single nucleotide variant not specified [RCV000500086] Chr9:124500195 [GRCh38]
Chr9:127262474 [GRCh37]
Chr9:9q33.3
likely benign
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu) single nucleotide variant 46,XY sex reversal, type 3 [RCV000502487] Chr9:124493082 [GRCh38]
Chr9:127255361 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_004959.5(NR5A1):c.34_38delinsGACCTGGACCTGT (p.Leu12fs) indel 46,XY sex reversal, type 3 [RCV000502696] Chr9:124503358..124503362 [GRCh38]
Chr9:127265637..127265641 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.205_206delinsTT (p.Arg69Phe) indel not specified [RCV000500900] Chr9:124503117..124503118 [GRCh38]
Chr9:127265396..127265397 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_004959.5(NR5A1):c.1379A>G (p.Gln460Arg) single nucleotide variant not provided [RCV000493185] Chr9:124482765 [GRCh38]
Chr9:127245044 [GRCh37]
Chr9:9q33.3
uncertain significance
NC_000009.12:g.(?_124482420)_(124482928_?)del deletion Oligosynaptic infertility [RCV000647734] Chr9:124482420..124482928 [GRCh38]
Chr9:127244699..127245207 [GRCh37]
Chr9:9q33.3
likely pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
NM_004959.5(NR5A1):c.225G>C (p.Thr75=) single nucleotide variant not specified [RCV000607274] Chr9:124503098 [GRCh38]
Chr9:127265377 [GRCh37]
Chr9:9q33.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_004959.5(NR5A1):c.88T>C (p.Cys30Arg) single nucleotide variant 46,XX sex reversal 4 [RCV001195742]|Oligosynaptic infertility [RCV000691717] Chr9:124503308 [GRCh38]
Chr9:127265587 [GRCh37]
Chr9:9q33.3
likely pathogenic|uncertain significance
NM_004959.5(NR5A1):c.1227C>G (p.Tyr409Ter) single nucleotide variant Oligosynaptic infertility [RCV000707402] Chr9:124482917 [GRCh38]
Chr9:127245196 [GRCh37]
Chr9:9q33.3
likely pathogenic
GRCh37/hg19 9q33.3(chr9:127204712-127267689)x1 copy number loss not provided [RCV000748662] Chr9:127204712..127267689 [GRCh37]
Chr9:9q33.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_004959.5(NR5A1):c.306C>T (p.Asp102=) single nucleotide variant not provided [RCV000951456] Chr9:124500654 [GRCh38]
Chr9:127262933 [GRCh37]
Chr9:9q33.3
likely benign
NM_004959.5(NR5A1):c.84C>G (p.Leu28=) single nucleotide variant not provided [RCV000965798] Chr9:124503312 [GRCh38]
Chr9:127265591 [GRCh37]
Chr9:9q33.3
likely benign
NM_004959.5(NR5A1):c.1353G>A (p.Leu451=) single nucleotide variant Oligosynaptic infertility [RCV000870947] Chr9:124482791 [GRCh38]
Chr9:127245070 [GRCh37]
Chr9:9q33.3
benign
NM_004959.5(NR5A1):c.462C>T (p.Ala154=) single nucleotide variant not provided [RCV000966708] Chr9:124500498 [GRCh38]
Chr9:127262777 [GRCh37]
Chr9:9q33.3
benign
NM_004959.5(NR5A1):c.129_131CAA[1] (p.Asn44del) microsatellite Oligosynaptic infertility [RCV001056064]|not provided [RCV001269583] Chr9:124503189..124503191 [GRCh38]
Chr9:127265468..127265470 [GRCh37]
Chr9:9q33.3
pathogenic|likely pathogenic
NC_000009.12:g.(?_124481358)_(124505411_?)del deletion Oligosynaptic infertility [RCV001033559] Chr9:127243637..127267690 [GRCh37]
Chr9:9q33.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_004959.5(NR5A1):c.339T>A (p.Ile113=) single nucleotide variant not provided [RCV000944492] Chr9:124500621 [GRCh38]
Chr9:127262900 [GRCh37]
Chr9:9q33.3
likely benign
NM_004959.5(NR5A1):c.1141T>C (p.Leu381=) single nucleotide variant not provided [RCV000926684] Chr9:124483003 [GRCh38]
Chr9:127245282 [GRCh37]
Chr9:9q33.3
likely benign
NM_004959.5(NR5A1):c.633C>T (p.Tyr211=) single nucleotide variant Oligosynaptic infertility [RCV000874724] Chr9:124500327 [GRCh38]
Chr9:127262606 [GRCh37]
Chr9:9q33.3
likely benign
NM_004959.5(NR5A1):c.1128C>T (p.Leu376=) single nucleotide variant not provided [RCV000980320] Chr9:124491091 [GRCh38]
Chr9:127253370 [GRCh37]
Chr9:9q33.3
likely benign
NM_004959.5(NR5A1):c.666C>T (p.Asn222=) single nucleotide variant not provided [RCV000872440] Chr9:124500294 [GRCh38]
Chr9:127262573 [GRCh37]
Chr9:9q33.3
likely benign
NM_004959.5(NR5A1):c.870+8T>C single nucleotide variant not provided [RCV000923344] Chr9:124500082 [GRCh38]
Chr9:127262361 [GRCh37]
Chr9:9q33.3
likely benign
NM_004959.5(NR5A1):c.990G>A (p.Glu330=) single nucleotide variant 46,XY sex reversal, type 3 [RCV000824833] Chr9:124493030 [GRCh38]
Chr9:127255309 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_004959.5(NR5A1):c.251G>A (p.Arg84His) single nucleotide variant Oligosynaptic infertility [RCV000794484] Chr9:124500709 [GRCh38]
Chr9:127262988 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_004959.5(NR5A1):c.460G>A (p.Ala154Thr) single nucleotide variant Oligosynaptic infertility [RCV000813035] Chr9:124500500 [GRCh38]
Chr9:127262779 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_004959.5(NR5A1):c.942G>C (p.Gln314His) single nucleotide variant Oligosynaptic infertility [RCV000794706] Chr9:124493078 [GRCh38]
Chr9:127255357 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_004959.5(NR5A1):c.1172_1208dup (p.Asp403delinsGluArgArgSerGlyGluGlyGlnArgArgProAlaTer) duplication not provided [RCV001008928] Chr9:124482935..124482936 [GRCh38]
Chr9:127245214..127245215 [GRCh37]
Chr9:9q33.3
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NM_004959.5(NR5A1):c.398del (p.Pro133fs) deletion not provided [RCV001009238] Chr9:124500562 [GRCh38]
Chr9:127262841 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.219C>G (p.Cys73Trp) single nucleotide variant Oligosynaptic infertility [RCV001204202] Chr9:124503104 [GRCh38]
Chr9:127265383 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_004959.5(NR5A1):c.942G>A (p.Gln314=) single nucleotide variant not provided [RCV000931703] Chr9:124493078 [GRCh38]
Chr9:127255357 [GRCh37]
Chr9:9q33.3
benign
NM_004959.5(NR5A1):c.786C>T (p.Phe262=) single nucleotide variant not provided [RCV000960652] Chr9:124500174 [GRCh38]
Chr9:127262453 [GRCh37]
Chr9:9q33.3
likely benign
NM_004959.5(NR5A1):c.*1400T>C single nucleotide variant not provided [RCV000870488] Chr9:124481358 [GRCh38]
Chr9:127243637 [GRCh37]
Chr9:9q33.3
benign
NM_004959.5(NR5A1):c.390G>A (p.Pro130=) single nucleotide variant not provided [RCV000873403] Chr9:124500570 [GRCh38]
Chr9:127262849 [GRCh37]
Chr9:9q33.3
likely benign
NM_004959.5(NR5A1):c.*82C>T single nucleotide variant not provided [RCV000870489] Chr9:124482676 [GRCh38]
Chr9:127244955 [GRCh37]
Chr9:9q33.3
benign
NM_004959.5(NR5A1):c.982G>A (p.Gly328Arg) single nucleotide variant Oligosynaptic infertility [RCV001231093] Chr9:124493038 [GRCh38]
Chr9:127255317 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_004959.5(NR5A1):c.291G>A (p.Pro97=) single nucleotide variant not provided [RCV000935774] Chr9:124500669 [GRCh38]
Chr9:127262948 [GRCh37]
Chr9:9q33.3
likely benign
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs) deletion 46,XY sex reversal, type 3 [RCV000984938] Chr9:124500424..124500505 [GRCh38]
Chr9:127262703..127262784 [GRCh37]
Chr9:9q33.3
likely pathogenic
NM_004959.5(NR5A1):c.1307A>G (p.Tyr436Cys) single nucleotide variant Oligosynaptic infertility [RCV001049873] Chr9:124482837 [GRCh38]
Chr9:127245116 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_004959.5(NR5A1):c.334C>T (p.Gln112Ter) single nucleotide variant Oligosynaptic infertility [RCV001232154] Chr9:124500626 [GRCh38]
Chr9:127262905 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.1138+5G>A single nucleotide variant Oligosynaptic infertility [RCV001211311] Chr9:124491076 [GRCh38]
Chr9:127253355 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_004959.5(NR5A1):c.97T>A (p.Cys33Ser) single nucleotide variant not provided [RCV001269521] Chr9:124503299 [GRCh38]
Chr9:127265578 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.400C>T (p.Pro134Ser) single nucleotide variant Oligosynaptic infertility [RCV001315764] Chr9:124500560 [GRCh38]
Chr9:127262839 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_004959.5(NR5A1):c.637_640dup (p.Pro214fs) duplication 46,XX sex reversal 4 [RCV001333321] Chr9:124500319..124500320 [GRCh38]
Chr9:127262598..127262599 [GRCh37]
Chr9:9q33.3
pathogenic
NM_004959.5(NR5A1):c.428G>C (p.Ser143Thr) single nucleotide variant Oligosynaptic infertility [RCV001306883] Chr9:124500532 [GRCh38]
Chr9:127262811 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_004959.5(NR5A1):c.100A>T (p.Lys34Ter) single nucleotide variant not provided [RCV001269901] Chr9:124503296 [GRCh38]
Chr9:127265575 [GRCh37]
Chr9:9q33.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7983 AgrOrtholog
COSMIC NR5A1 COSMIC
Ensembl Genes ENSG00000136931 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000362689 UniProtKB/TrEMBL
  ENSP00000362690 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393245 UniProtKB/TrEMBL
  ENSP00000483309 UniProtKB/TrEMBL
Ensembl Transcript ENST00000373587 UniProtKB/TrEMBL
  ENST00000373588 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000455734 UniProtKB/TrEMBL
  ENST00000620110 UniProtKB/TrEMBL
Gene3D-CATH 1.10.565.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.50.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136931 GTEx
HGNC ID HGNC:7983 ENTREZGENE
Human Proteome Map NR5A1 Human Proteome Map
InterPro NHR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NR5_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucl_hrmn_rcpt_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuclear_hrmn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_hrmn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_NHR/GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2516 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2516 ENTREZGENE
OMIM 184757 OMIM
  612964 OMIM
  612965 OMIM
  613957 OMIM
  617480 OMIM
PANTHER PTHR24086 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hormone_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31764 PharmGKB
PIRSF Nuc_orph_FTZ-F1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS STRDHORMONER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STROIDFINGER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NR_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR_REC_DBD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR_REC_DBD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOLI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48508 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1E1GJF0_HUMAN UniProtKB/TrEMBL
  B6ZGU8_HUMAN UniProtKB/TrEMBL
  F1D8R8 ENTREZGENE, UniProtKB/TrEMBL
  F1DAM0_HUMAN UniProtKB/TrEMBL
  L8ECB8_HUMAN UniProtKB/TrEMBL
  Q13285 ENTREZGENE
  Q5T6F6_HUMAN UniProtKB/TrEMBL
  Q5T6F7_HUMAN UniProtKB/TrEMBL
  STF1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary O15196 UniProtKB/Swiss-Prot
  Q5T6F5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NR5A1  nuclear receptor subfamily 5 group A member 1    nuclear receptor subfamily 5, group A, member 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 NR5A1  nuclear receptor subfamily 5, group A, member 1  NR5A1  nuclear receptor subfamily 5, group A, member 1  Symbol and/or name change 5135510 APPROVED