NR2F1 (nuclear receptor subfamily 2 group F member 1) - Rat Genome Database

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Gene: NR2F1 (nuclear receptor subfamily 2 group F member 1) Homo sapiens
Analyze
Symbol: NR2F1
Name: nuclear receptor subfamily 2 group F member 1
RGD ID: 732429
HGNC Page HGNC:7975
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. Implicated in Bosch-Boonstra-Schaaf optic atrophy syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BBOAS; BBSOAS; chicken ovalbumin upstream promoter-transcription factor I; COUP transcription factor 1; COUP transcription factor I; COUP-TF I; COUP-TF1; COUP-TFI; COUPTF1; EAR-3; EAR3; ERBAL3; NR2F2; nuclear receptor subfamily 2, group F, member 1; SVP44; TCFCOUP1; TFCOUP1; transcription factor COUP 1 (chicken ovalbumin upstream promoter 1, v-erb-a homolog-like 3); V-erbA-related protein 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38593,583,222 - 93,594,611 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl593,583,222 - 93,594,611 (+)EnsemblGRCh38hg38GRCh38
GRCh37592,918,928 - 92,930,317 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36592,944,799 - 92,955,544 (+)NCBINCBI36Build 36hg18NCBI36
Build 34592,944,798 - 92,955,540NCBI
Celera588,778,440 - 88,789,186 (+)NCBICelera
Cytogenetic Map5q15NCBI
HuRef588,092,169 - 88,102,739 (+)NCBIHuRef
CHM1_1592,351,749 - 92,362,489 (+)NCBICHM1_1
T2T-CHM13v2.0594,067,283 - 94,078,673 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-methylcholine  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
alpha-naphthoflavone  (EXP)
ammonium chloride  (ISO)
amphotericin B  (EXP)
antimycin A  (EXP)
arachidonic acid  (EXP)
arotinoid acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[ghi]perylene  (EXP)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bucladesine  (EXP)
butanal  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
CGP 52608  (EXP)
CHIR 99021  (EXP)
chlordecone  (ISO)
ciglitazone  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cortisol  (EXP)
cyclosporin A  (EXP)
D-glucose  (EXP)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
diallyl trisulfide  (EXP)
dichlorine  (ISO)
diclofenac  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenpyroximate  (EXP)
fructose  (EXP)
geraniol  (EXP)
glucose  (EXP)
hydroquinone O-beta-D-glucopyranoside  (EXP)
isotretinoin  (EXP)
ketoconazole  (EXP)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
medroxyprogesterone acetate  (EXP)
mercury dibromide  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
oxaliplatin  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
pirinixic acid  (ISO)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
tamoxifen  (ISO)
tebufenpyrad  (EXP)
temozolomide  (EXP)
testosterone  (EXP,ISO)
thapsigargin  (EXP)
thifluzamide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (EXP)
triacsin C  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)
XAV939  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IDA)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1311101   PMID:1331778   PMID:1517211   PMID:2739739   PMID:2905047   PMID:8530078   PMID:8551580   PMID:8622679   PMID:8798567   PMID:9388268   PMID:9395481   PMID:10207062  
PMID:10620335   PMID:10644726   PMID:10644740   PMID:10652338   PMID:10656770   PMID:10744719   PMID:11043578   PMID:11368516   PMID:11811951   PMID:11934895   PMID:12093745   PMID:12130562  
PMID:12477932   PMID:12551987   PMID:12972613   PMID:15140878   PMID:15157742   PMID:15489334   PMID:15604093   PMID:16219912   PMID:17009409   PMID:17674191   PMID:18199540   PMID:19112178  
PMID:19274049   PMID:19322201   PMID:19460752   PMID:19505873   PMID:19526345   PMID:19578876   PMID:20007910   PMID:20111703   PMID:20306291   PMID:21873635   PMID:21900206   PMID:22357705  
PMID:22952844   PMID:23300014   PMID:23975195   PMID:24462372   PMID:24906407   PMID:25609649   PMID:25787832   PMID:26186194   PMID:26760575   PMID:26986877   PMID:27609421   PMID:28473536  
PMID:28514442   PMID:28922831   PMID:28963436   PMID:29150431   PMID:29365100   PMID:29844126   PMID:30322396   PMID:30445268   PMID:30804502   PMID:31073040   PMID:31091453   PMID:31357956  
PMID:31435636   PMID:31530388   PMID:31729143   PMID:31913971   PMID:31994002   PMID:32275123   PMID:32484994   PMID:32712214   PMID:33661352   PMID:33961781   PMID:34475402   PMID:34686322  
PMID:34738863   PMID:34812843   PMID:34837429   PMID:35462433   PMID:35471456   PMID:35509820   PMID:35818636   PMID:35936005   PMID:36508512   PMID:38010976   PMID:38499532  


Genomics

Comparative Map Data
NR2F1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38593,583,222 - 93,594,611 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl593,583,222 - 93,594,611 (+)EnsemblGRCh38hg38GRCh38
GRCh37592,918,928 - 92,930,317 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36592,944,799 - 92,955,544 (+)NCBINCBI36Build 36hg18NCBI36
Build 34592,944,798 - 92,955,540NCBI
Celera588,778,440 - 88,789,186 (+)NCBICelera
Cytogenetic Map5q15NCBI
HuRef588,092,169 - 88,102,739 (+)NCBIHuRef
CHM1_1592,351,749 - 92,362,489 (+)NCBICHM1_1
T2T-CHM13v2.0594,067,283 - 94,078,673 (+)NCBIT2T-CHM13v2.0
Nr2f1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391378,337,090 - 78,346,954 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1378,337,092 - 78,347,876 (-)EnsemblGRCm39 Ensembl
GRCm381378,188,971 - 78,198,873 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1378,188,973 - 78,199,757 (-)EnsemblGRCm38mm10GRCm38
MGSCv371378,328,234 - 78,338,243 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361378,652,524 - 78,662,420 (-)NCBIMGSCv36mm8
Celera1380,475,542 - 80,485,460 (-)NCBICelera
Cytogenetic Map13C1NCBI
cM Map1341.38NCBI
Nr2f1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr829,776,179 - 9,785,924 (-)NCBIGRCr8
mRatBN7.228,040,375 - 8,050,123 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl28,040,377 - 8,050,123 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx215,156,212 - 15,165,958 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0213,255,522 - 13,265,268 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.027,905,787 - 7,915,533 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.025,569,954 - 5,579,894 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl25,569,935 - 5,579,894 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.025,553,211 - 5,563,152 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.425,765,399 - 5,794,104 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.125,791,963 - 5,820,665 (-)NCBI
Celera24,489,100 - 4,498,590 (-)NCBICelera
Cytogenetic Map2q11NCBI
Nr2f1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541818,614,995 - 18,624,584 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541818,615,548 - 18,622,984 (-)NCBIChiLan1.0ChiLan1.0
NR2F1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2421,798,293 - 21,808,047 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1519,951,902 - 19,964,301 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0521,773,283 - 21,785,746 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1521,909,691 - 21,918,776 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl521,910,463 - 21,918,776 (-)Ensemblpanpan1.1panPan2
NR2F1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1315,707,198 - 15,716,875 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl315,707,640 - 15,716,875 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha317,056,142 - 17,065,912 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0315,603,857 - 15,613,637 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl315,603,875 - 15,613,542 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1315,559,980 - 15,569,747 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0315,546,214 - 15,555,980 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0315,764,483 - 15,774,264 (-)NCBIUU_Cfam_GSD_1.0
Nr2f1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213171,322,457 - 171,331,829 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365239,507,965 - 9,517,272 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365239,508,204 - 9,517,266 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NR2F1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2100,447,705 - 100,457,506 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12100,447,661 - 100,457,510 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22103,839,017 - 103,848,870 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NR2F1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1487,463,514 - 87,475,900 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl487,466,249 - 87,475,112 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604936,657,859 - 36,670,290 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nr2f1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474312,478,832 - 12,488,458 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474312,479,427 - 12,488,178 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NR2F1
296 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) single nucleotide variant Global developmental delay [RCV000735394] Chr5:93585288 [GRCh38]
Chr5:92920994 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000114388] Chr5:93585362 [GRCh38]
Chr5:92921068 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter) indel Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000656396] Chr5:93588182..93588183 [GRCh38]
Chr5:92923888..92923889 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.665T>C (p.Leu222Pro) single nucleotide variant not provided [RCV003321210] Chr5:93588118 [GRCh38]
Chr5:92923824 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.313G>A (p.Gly105Ser) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001249826]|not provided [RCV000519537] Chr5:93585336 [GRCh38]
Chr5:92921042 [GRCh37]
Chr5:5q15		 likely pathogenic|uncertain significance
NM_005654.6(NR2F1):c.290A>C (p.His97Pro) single nucleotide variant not provided [RCV000519522] Chr5:93585313 [GRCh38]
Chr5:92921019 [GRCh37]
Chr5:5q15		 pathogenic|uncertain significance
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000114387] Chr5:93585367 [GRCh38]
Chr5:92921073 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000114389] Chr5:93588208 [GRCh38]
Chr5:92923914 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000114390] Chr5:93585358 [GRCh38]
Chr5:92921064 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1 copy number loss See cases [RCV000050945] Chr5:87376883..101524443 [GRCh38]
Chr5:86672700..100860147 [GRCh37]
Chr5:86708456..100888046 [NCBI36]
Chr5:5q14.3-21.1		 pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1		 pathogenic
GRCh38/hg38 5q15(chr5:93405010-97716265)x3 copy number gain See cases [RCV000053285] Chr5:93405010..97716265 [GRCh38]
Chr5:92740716..97051969 [GRCh37]
Chr5:92766472..97077725 [NCBI36]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-15(chr5:88936770-94102018)x1 copy number loss See cases [RCV000053480] Chr5:88936770..94102018 [GRCh38]
Chr5:88232587..93437723 [GRCh37]
Chr5:88268343..93463479 [NCBI36]
Chr5:5q14.3-15		 pathogenic
GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1 copy number loss See cases [RCV000053516] Chr5:89081352..104687248 [GRCh38]
Chr5:88377169..104022949 [GRCh37]
Chr5:88412925..104050848 [NCBI36]
Chr5:5q14.3-21.2		 pathogenic
GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1 copy number loss See cases [RCV000053519] Chr5:91386552..98365880 [GRCh38]
Chr5:90682369..97701584 [GRCh37]
Chr5:90718125..97729488 [NCBI36]
Chr5:5q14.3-15		 pathogenic
GRCh38/hg38 5q15(chr5:93078983-95529159)x1 copy number loss See cases [RCV000053521] Chr5:93078983..95529159 [GRCh38]
Chr5:92414689..94864863 [GRCh37]
Chr5:92440445..94890619 [NCBI36]
Chr5:5q15		 pathogenic
GRCh37/hg19 5q15(chr5:92919336-92925582)x4 copy number gain See cases [RCV000184082] Chr5:92919336..92925582 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1 copy number loss See cases [RCV000135748] Chr5:85966055..101335711 [GRCh38]
Chr5:85261873..100671415 [GRCh37]
Chr5:85297629..100699314 [NCBI36]
Chr5:5q14.3-21.1		 pathogenic
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3		 pathogenic
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 copy number loss See cases [RCV000139656] Chr5:84603580..111435081 [GRCh38]
Chr5:83899398..110770779 [GRCh37]
Chr5:83935154..110798678 [NCBI36]
Chr5:5q14.3-22.1		 pathogenic
GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1 copy number loss See cases [RCV000141252] Chr5:92899734..119614119 [GRCh38]
Chr5:92235441..118949814 [GRCh37]
Chr5:92261197..118977713 [NCBI36]
Chr5:5q14.3-23.1		 pathogenic
GRCh38/hg38 5q14.3-15(chr5:92031269-93947338)x1 copy number loss See cases [RCV000140706] Chr5:92031269..93947338 [GRCh38]
Chr5:91327086..93283043 [GRCh37]
Chr5:91362842..93308799 [NCBI36]
Chr5:5q14.3-15		 likely pathogenic|uncertain significance
GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1 copy number loss See cases [RCV000143249] Chr5:93193104..113287795 [GRCh38]
Chr5:92528810..112623492 [GRCh37]
Chr5:92554566..112651391 [NCBI36]
Chr5:5q15-22.2		 pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1		 pathogenic
NM_005654.6(NR2F1):c.382T>C (p.Cys128Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000200428] Chr5:93585405 [GRCh38]
Chr5:92921111 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.262G>A (p.Val88Met) single nucleotide variant not provided [RCV000255287] Chr5:93585285 [GRCh38]
Chr5:92920991 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.417A>T (p.Gln139His) single nucleotide variant not provided [RCV000275857] Chr5:93585440 [GRCh38]
Chr5:92921146 [GRCh37]
Chr5:5q15		 pathogenic
Single allele deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000203289] Chr5:92845157..93679748 [GRCh37]
Chr5:5q15		 likely pathogenic
Single allele deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000203294] Chr5:91064110..93896378 [GRCh37]
Chr5:5q14.3-15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.165G>C (p.Pro55=) single nucleotide variant not provided [RCV001707816] Chr5:93585188 [GRCh38]
Chr5:92920894 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.666G>A (p.Leu222=) single nucleotide variant not provided [RCV002066629]|not specified [RCV000606502] Chr5:93588119 [GRCh38]
Chr5:92923825 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.424C>T (p.Arg142Cys) single nucleotide variant not provided [RCV000298774] Chr5:93585447 [GRCh38]
Chr5:92921153 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.2T>C (p.Met1Thr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001353108]|Inborn genetic diseases [RCV002518806]|not provided [RCV000334239] Chr5:93585025 [GRCh38]
Chr5:92920731 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.69C>T (p.Pro23=) single nucleotide variant not provided [RCV000522625] Chr5:93585092 [GRCh38]
Chr5:92920798 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.459G>T (p.Arg153=) single nucleotide variant not provided [RCV000578574] Chr5:93585482 [GRCh38]
Chr5:92921188 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.278C>A (p.Ser93Ter) single nucleotide variant not provided [RCV000488146] Chr5:93585301 [GRCh38]
Chr5:92921007 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.505G>A (p.Gly169Ser) single nucleotide variant not provided [RCV000488974] Chr5:93587958 [GRCh38]
Chr5:92923664 [GRCh37]
Chr5:5q15		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.939C>T (p.His313=) single nucleotide variant not specified [RCV000605340] Chr5:93588392 [GRCh38]
Chr5:92924098 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.425G>T (p.Arg142Leu) single nucleotide variant Inborn genetic diseases [RCV000623144] Chr5:93585448 [GRCh38]
Chr5:92921154 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.314G>A (p.Gly105Asp) single nucleotide variant not provided [RCV000523726] Chr5:93585337 [GRCh38]
Chr5:92921043 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.558C>T (p.Ser186=) single nucleotide variant not provided [RCV002531620]|not specified [RCV000603404] Chr5:93588011 [GRCh38]
Chr5:92923717 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1149C>T (p.Ser383=) single nucleotide variant not provided [RCV003767501]|not specified [RCV000603165] Chr5:93593719 [GRCh38]
Chr5:92929425 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.183C>T (p.Pro61=) single nucleotide variant not provided [RCV001552304]|not specified [RCV000413677] Chr5:93585206 [GRCh38]
Chr5:92920912 [GRCh37]
Chr5:5q15		 likely benign|no classifications from unflagged records
NM_005654.6(NR2F1):c.1134C>A (p.Arg378=) single nucleotide variant not provided [RCV000922007]|not specified [RCV000417465] Chr5:93593704 [GRCh38]
Chr5:92929410 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.192C>T (p.Pro64=) single nucleotide variant not provided [RCV001698271] Chr5:93585215 [GRCh38]
Chr5:92920921 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.1248T>A (p.Pro416=) single nucleotide variant not specified [RCV000424138] Chr5:93593818 [GRCh38]
Chr5:92929524 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.60C>G (p.Pro20=) single nucleotide variant not provided [RCV002521645]|not specified [RCV000431353] Chr5:93585083 [GRCh38]
Chr5:92920789 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.-33C>T single nucleotide variant not specified [RCV000434830] Chr5:93584991 [GRCh38]
Chr5:92920697 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.153G>A (p.Thr51=) single nucleotide variant not provided [RCV002525398]|not specified [RCV000442163] Chr5:93585176 [GRCh38]
Chr5:92920882 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_005654.6(NR2F1):c.1197C>T (p.Ile399=) single nucleotide variant not provided [RCV001697835] Chr5:93593767 [GRCh38]
Chr5:92929473 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.226G>A (p.Gly76Ser) single nucleotide variant not provided [RCV000421900] Chr5:93585249 [GRCh38]
Chr5:92920955 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.162C>A (p.Thr54=) single nucleotide variant not provided [RCV000712442]|not specified [RCV000425536] Chr5:93585185 [GRCh38]
Chr5:92920891 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000505414] Chr5:93593685 [GRCh38]
Chr5:92929391 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.257G>T (p.Cys86Phe) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000505484] Chr5:93585280 [GRCh38]
Chr5:92920986 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.992-16G>A single nucleotide variant not provided [RCV002063605]|not specified [RCV000422995] Chr5:93593546 [GRCh38]
Chr5:92929252 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.*9C>T single nucleotide variant not provided [RCV000712441] Chr5:93593851 [GRCh38]
Chr5:92929557 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.365G>C (p.Cys122Ser) single nucleotide variant not provided [RCV000439198] Chr5:93585388 [GRCh38]
Chr5:92921094 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.531C>T (p.Asp177=) single nucleotide variant not specified [RCV000420540] Chr5:93587984 [GRCh38]
Chr5:92923690 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.463+5A>G single nucleotide variant NR2F1-related condition [RCV003912675]|not provided [RCV001703729] Chr5:93585491 [GRCh38]
Chr5:92921197 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.413G>A (p.Cys138Tyr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000416416] Chr5:93585436 [GRCh38]
Chr5:92921142 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.1217T>C (p.Met406Thr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000477887] Chr5:93593787 [GRCh38]
Chr5:92929493 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1050C>A (p.Cys350Ter) single nucleotide variant not provided [RCV000483410] Chr5:93593620 [GRCh38]
Chr5:92929326 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000484839] Chr5:93585024 [GRCh38]
Chr5:92920730 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.1165TTC[1] (p.Phe390del) microsatellite not provided [RCV000478365] Chr5:93593733..93593735 [GRCh38]
Chr5:92929439..92929441 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.323G>T (p.Ser108Ile) single nucleotide variant not provided [RCV000497695] Chr5:93585346 [GRCh38]
Chr5:92921052 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.317G>A (p.Cys106Tyr) single nucleotide variant Inborn genetic diseases [RCV001266705]|not provided [RCV000494334] Chr5:93585340 [GRCh38]
Chr5:92921046 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
NM_005654.6(NR2F1):c.211G>A (p.Gly71Ser) single nucleotide variant not provided [RCV000494526] Chr5:93585234 [GRCh38]
Chr5:92920940 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
NM_005654.6(NR2F1):c.1170C>G (p.Phe390Leu) single nucleotide variant not provided [RCV000519630] Chr5:93593740 [GRCh38]
Chr5:92929446 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.425G>A (p.Arg142His) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000677703]|Inborn genetic diseases [RCV000624896]|not provided [RCV002285376] Chr5:93585448 [GRCh38]
Chr5:92921154 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.991+19G>A single nucleotide variant not specified [RCV000616595] Chr5:93588463 [GRCh38]
Chr5:92924169 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.903C>A (p.Ile301=) single nucleotide variant not provided [RCV000945875] Chr5:93588356 [GRCh38]
Chr5:92924062 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.991+12del deletion not provided [RCV002065266]|not specified [RCV000616749] Chr5:93588455 [GRCh38]
Chr5:92924161 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.991+10C>A single nucleotide variant not provided [RCV002529749]|not specified [RCV000608348] Chr5:93588454 [GRCh38]
Chr5:92924160 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.276G>A (p.Lys92=) single nucleotide variant not provided [RCV000924182]|not specified [RCV000616949] Chr5:93585299 [GRCh38]
Chr5:92921005 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.162C>T (p.Thr54=) single nucleotide variant not specified [RCV000600991] Chr5:93585185 [GRCh38]
Chr5:92920891 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.807G>A (p.Met269Ile) single nucleotide variant not provided [RCV003314908] Chr5:93588260 [GRCh38]
Chr5:92923966 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.708C>T (p.Asn236=) single nucleotide variant not provided [RCV001712653] Chr5:93588161 [GRCh38]
Chr5:92923867 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.110_115dup (p.Ala37_Gly38dup) duplication Inborn genetic diseases [RCV002529373]|not provided [RCV001370383] Chr5:93585127..93585128 [GRCh38]
Chr5:92920833..92920834 [GRCh37]
Chr5:5q15		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.540C>T (p.Asn180=) single nucleotide variant NR2F1-related condition [RCV003980148]|not provided [RCV001722660] Chr5:93587993 [GRCh38]
Chr5:92923699 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.92GCG[7] (p.Gly36dup) microsatellite not provided [RCV000658342] Chr5:93585114..93585115 [GRCh38]
Chr5:92920820..92920821 [GRCh37]
Chr5:5q15		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.403C>T (p.Arg135Cys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000677401] Chr5:93585426 [GRCh38]
Chr5:92921132 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.172C>A (p.Pro58Thr) single nucleotide variant not provided [RCV000658212] Chr5:93585195 [GRCh38]
Chr5:92920901 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1 copy number loss not provided [RCV000682580] Chr5:91504101..104858348 [GRCh37]
Chr5:5q14.3-21.3		 pathogenic
NM_005654.6(NR2F1):c.289C>G (p.His97Asp) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000677407] Chr5:93585312 [GRCh38]
Chr5:92921018 [GRCh37]
Chr5:5q15		 likely pathogenic
GRCh37/hg19 5q14.3-15(chr5:90664386-93537229)x3 copy number gain not provided [RCV000682579] Chr5:90664386..93537229 [GRCh37]
Chr5:5q14.3-15		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q14.3-15(chr5:87512314-95096562)x1 copy number loss not provided [RCV000744913] Chr5:87512314..95096562 [GRCh37]
Chr5:5q14.3-15		 pathogenic
GRCh37/hg19 5q15(chr5:92920195-92929852)x1 copy number loss not provided [RCV000744937] Chr5:92920195..92929852 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.-1588T>C single nucleotide variant not provided [RCV001565132] Chr5:93583436 [GRCh38]
Chr5:92919142 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.239G>T (p.Ser80Ile) single nucleotide variant not provided [RCV000762150] Chr5:93585262 [GRCh38]
Chr5:92920968 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1065C>G (p.Tyr355Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001199035]|not provided [RCV000762151] Chr5:93593635 [GRCh38]
Chr5:92929341 [GRCh37]
Chr5:5q15		 likely pathogenic|uncertain significance
NM_005654.6(NR2F1):c.353T>G (p.Leu118Ter) single nucleotide variant not provided [RCV000760776] Chr5:93585376 [GRCh38]
Chr5:92921082 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.1174C>T (p.Arg392Cys) single nucleotide variant not provided [RCV001585457] Chr5:93593744 [GRCh38]
Chr5:92929450 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002287503]|not provided [RCV001578261] Chr5:93593594 [GRCh38]
Chr5:92929300 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005654.6(NR2F1):c.288G>A (p.Lys96=) single nucleotide variant not provided [RCV000923016] Chr5:93585311 [GRCh38]
Chr5:92921017 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1060G>A (p.Glu354Lys) single nucleotide variant not provided [RCV003312627] Chr5:93593630 [GRCh38]
Chr5:92929336 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1219T>C (p.Leu407=) single nucleotide variant not provided [RCV000983666] Chr5:93593789 [GRCh38]
Chr5:92929495 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.282C>A (p.Ser94Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003314114] Chr5:93585305 [GRCh38]
Chr5:92921011 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.987G>A (p.Thr329=) single nucleotide variant not provided [RCV000916173] Chr5:93588440 [GRCh38]
Chr5:92924146 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.354_357del (p.Leu118fs) deletion not provided [RCV000998409] Chr5:93585376..93585379 [GRCh38]
Chr5:92921082..92921085 [GRCh37]
Chr5:5q15		 likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_005654.6(NR2F1):c.237G>C (p.Gln79His) single nucleotide variant not provided [RCV000836217] Chr5:93585260 [GRCh38]
Chr5:92920966 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.90_99del (p.Arg31fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000824861] Chr5:93585107..93585116 [GRCh38]
Chr5:92920813..92920822 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.289C>T (p.His97Tyr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000824821] Chr5:93585312 [GRCh38]
Chr5:92921018 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.48C>T (p.Ala16=) single nucleotide variant not provided [RCV000841311] Chr5:93585071 [GRCh38]
Chr5:92920777 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.-187G>A single nucleotide variant not provided [RCV000835781] Chr5:93584837 [GRCh38]
Chr5:92920543 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1117C>T (p.Arg373Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000985203] Chr5:93593687 [GRCh38]
Chr5:92929393 [GRCh37]
Chr5:5q15		 likely pathogenic
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3		 pathogenic
GRCh37/hg19 5q15(chr5:92618672-93196696)x1 copy number loss not provided [RCV001005701] Chr5:92618672..93196696 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.452T>C (p.Met151Thr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001004747] Chr5:93585475 [GRCh38]
Chr5:92921181 [GRCh37]
Chr5:5q15		 likely pathogenic
GRCh37/hg19 5q15(chr5:92386982-94865113)x1 copy number loss not provided [RCV000847387] Chr5:92386982..94865113 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.169C>T (p.Gln57Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001198789] Chr5:93585192 [GRCh38]
Chr5:92920898 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala) single nucleotide variant Autism spectrum disorder [RCV003127332] Chr5:93593754 [GRCh38]
Chr5:92929460 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.601T>A (p.Ser201Thr) single nucleotide variant not provided [RCV001550396] Chr5:93588054 [GRCh38]
Chr5:92923760 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.72C>A (p.Asn24Lys) single nucleotide variant not provided [RCV001574750] Chr5:93585095 [GRCh38]
Chr5:92920801 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.359dup (p.Tyr120Ter) duplication not provided [RCV001557484] Chr5:93585381..93585382 [GRCh38]
Chr5:92921087..92921088 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.66C>T (p.Gly22=) single nucleotide variant not provided [RCV001584961] Chr5:93585089 [GRCh38]
Chr5:92920795 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1170C>T (p.Phe390=) single nucleotide variant not provided [RCV000929871] Chr5:93593740 [GRCh38]
Chr5:92929446 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.810G>A (p.Pro270=) single nucleotide variant not provided [RCV000932811] Chr5:93588263 [GRCh38]
Chr5:92923969 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.40G>T (p.Asp14Tyr) single nucleotide variant not provided [RCV000880785] Chr5:93585063 [GRCh38]
Chr5:92920769 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1014G>A (p.Ala338=) single nucleotide variant not provided [RCV001732567] Chr5:93593584 [GRCh38]
Chr5:92929290 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1008G>A (p.Ser336=) single nucleotide variant not provided [RCV001570767] Chr5:93593578 [GRCh38]
Chr5:92929284 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.20G>A (p.Ser7Asn) single nucleotide variant not provided [RCV001552700] Chr5:93585043 [GRCh38]
Chr5:92920749 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.463+99C>G single nucleotide variant not provided [RCV001596530] Chr5:93585585 [GRCh38]
Chr5:92921291 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15		 pathogenic
NM_005654.6(NR2F1):c.189C>T (p.Thr63=) single nucleotide variant not provided [RCV001653056] Chr5:93585212 [GRCh38]
Chr5:92920918 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.*50C>T single nucleotide variant not provided [RCV001719484] Chr5:93593892 [GRCh38]
Chr5:92929598 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.801C>T (p.Cys267=) single nucleotide variant not provided [RCV001593516] Chr5:93588254 [GRCh38]
Chr5:92923960 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.756A>G (p.Leu252=) single nucleotide variant not provided [RCV001653153] Chr5:93588209 [GRCh38]
Chr5:92923915 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.323G>A (p.Ser108Asn) single nucleotide variant Neurodevelopmental delay [RCV002274359] Chr5:93585346 [GRCh38]
Chr5:92921052 [GRCh37]
Chr5:5q15		 likely pathogenic|likely benign
NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001192937] Chr5:93585279 [GRCh38]
Chr5:92920985 [GRCh37]
Chr5:5q15		 likely pathogenic
GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3 copy number gain See cases [RCV001007415] Chr5:87792844..109221844 [GRCh37]
Chr5:5q14.3-21.3		 likely pathogenic
NM_005654.6(NR2F1):c.*10G>A single nucleotide variant NR2F1-related condition [RCV003976019]|not provided [RCV001696071] Chr5:93593852 [GRCh38]
Chr5:92929558 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.464-43C>T single nucleotide variant not provided [RCV001609869] Chr5:93587874 [GRCh38]
Chr5:92923580 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.-1751CT[11] microsatellite not provided [RCV001545567] Chr5:93583272..93583273 [GRCh38]
Chr5:92918978..92918979 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.120del (p.Gln40fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001196876] Chr5:93585143 [GRCh38]
Chr5:92920849 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.453G>C (p.Met151Ile) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001027649] Chr5:93585476 [GRCh38]
Chr5:92921182 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.463+1G>A single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001196236] Chr5:93585487 [GRCh38]
Chr5:92921193 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.968_969del (p.Lys323fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001027693] Chr5:93588420..93588421 [GRCh38]
Chr5:92924126..92924127 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.986_990del (p.Thr329fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001253606] Chr5:93588436..93588440 [GRCh38]
Chr5:92924142..92924146 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.437G>A (p.Cys146Tyr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001253426] Chr5:93585460 [GRCh38]
Chr5:92921166 [GRCh37]
Chr5:5q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001254042] Chr5:93585350 [GRCh38]
Chr5:92921056 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1097G>A (p.Arg366His) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001265635]|not provided [RCV003698856] Chr5:93593667 [GRCh38]
Chr5:92929373 [GRCh37]
Chr5:5q15		 likely pathogenic|uncertain significance
NM_005654.6(NR2F1):c.111C>G (p.Ala37=) single nucleotide variant not provided [RCV001545710] Chr5:93585134 [GRCh38]
Chr5:92920840 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.667_668insTCGCGCGCTGG (p.Ala223fs) insertion not provided [RCV001268194] Chr5:93588115..93588116 [GRCh38]
Chr5:92923821..92923822 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.682_684dup (p.Phe228dup) duplication Inborn genetic diseases [RCV001266279] Chr5:93588132..93588133 [GRCh38]
Chr5:92923838..92923839 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.210G>C (p.Lys70Asn) single nucleotide variant not provided [RCV002284942] Chr5:93585233 [GRCh38]
Chr5:92920939 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.464-11_464-8del microsatellite not provided [RCV001539334] Chr5:93587901..93587904 [GRCh38]
Chr5:92923607..92923610 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.82C>T (p.Gln28Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001353111] Chr5:93585105 [GRCh38]
Chr5:92920811 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.513C>G (p.Tyr171Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001353110] Chr5:93587966 [GRCh38]
Chr5:92923672 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.533C>T (p.Pro178Leu) single nucleotide variant not provided [RCV001322812] Chr5:93587986 [GRCh38]
Chr5:92923692 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.452T>A (p.Met151Lys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001270370] Chr5:93585475 [GRCh38]
Chr5:92921181 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.286A>G (p.Lys96Glu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001353109] Chr5:93585309 [GRCh38]
Chr5:92921015 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.1241A>G (p.Asn414Ser) single nucleotide variant not provided [RCV001347274] Chr5:93593811 [GRCh38]
Chr5:92929517 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1083del (p.Asn362fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001353112]|not provided [RCV003238356] Chr5:93593650 [GRCh38]
Chr5:92929356 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg) single nucleotide variant See cases [RCV001420226]|not provided [RCV001762676] Chr5:93585343 [GRCh38]
Chr5:92921049 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|uncertain significance
NM_005654.6(NR2F1):c.993C>T (p.Asp331=) single nucleotide variant not provided [RCV001517465] Chr5:93593563 [GRCh38]
Chr5:92929269 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.953A>G (p.Glu318Gly) single nucleotide variant not provided [RCV001379597] Chr5:93588406 [GRCh38]
Chr5:92924112 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.765C>G (p.Thr255=) single nucleotide variant not provided [RCV001400041] Chr5:93588218 [GRCh38]
Chr5:92923924 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1044G>A (p.Ser348=) single nucleotide variant not provided [RCV001572361] Chr5:93593614 [GRCh38]
Chr5:92929320 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1023C>T (p.Ile341=) single nucleotide variant not provided [RCV001589637] Chr5:93593593 [GRCh38]
Chr5:92929299 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.150C>G (p.His50Gln) single nucleotide variant not provided [RCV002244393] Chr5:93585173 [GRCh38]
Chr5:92920879 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.208_211del (p.Lys70fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001775376] Chr5:93585231..93585234 [GRCh38]
Chr5:92920937..92920940 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.827T>A (p.Leu276Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002273331] Chr5:93588280 [GRCh38]
Chr5:92923986 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.755T>A (p.Leu252Gln) single nucleotide variant not provided [RCV001763494] Chr5:93588208 [GRCh38]
Chr5:92923914 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.916G>A (p.Val306Met) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001779380] Chr5:93588369 [GRCh38]
Chr5:92924075 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.218G>A (p.Gly73Asp) single nucleotide variant not provided [RCV001762985] Chr5:93585241 [GRCh38]
Chr5:92920947 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.497C>T (p.Pro166Leu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001775448] Chr5:93587950 [GRCh38]
Chr5:92923656 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.74C>G (p.Pro25Arg) single nucleotide variant not provided [RCV001771309] Chr5:93585097 [GRCh38]
Chr5:92920803 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.310G>A (p.Glu104Lys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003985104]|not provided [RCV001732931] Chr5:93585333 [GRCh38]
Chr5:92921039 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.1016C>A (p.Ala339Asp) single nucleotide variant not provided [RCV001767681] Chr5:93593586 [GRCh38]
Chr5:92929292 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.854C>T (p.Ser285Leu) single nucleotide variant not provided [RCV001772556] Chr5:93588307 [GRCh38]
Chr5:92924013 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.292T>C (p.Tyr98His) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001754557] Chr5:93585315 [GRCh38]
Chr5:92921021 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.244C>T (p.Gln82Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001775352] Chr5:93585267 [GRCh38]
Chr5:92920973 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1118G>A (p.Arg373Gln) single nucleotide variant not provided [RCV001752781] Chr5:93593688 [GRCh38]
Chr5:92929394 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1207_1209del (p.Ile403del) deletion not provided [RCV001760743] Chr5:93593775..93593777 [GRCh38]
Chr5:92929481..92929483 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.101G>T (p.Gly34Val) single nucleotide variant not provided [RCV001761078] Chr5:93585124 [GRCh38]
Chr5:92920830 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.328T>C (p.Phe110Leu) single nucleotide variant not provided [RCV001816396] Chr5:93585351 [GRCh38]
Chr5:92921057 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1096C>A (p.Arg366Ser) single nucleotide variant not provided [RCV001763473] Chr5:93593666 [GRCh38]
Chr5:92929372 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.429C>T (p.Leu143=) single nucleotide variant not provided [RCV001815942] Chr5:93585452 [GRCh38]
Chr5:92921158 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.547T>A (p.Cys183Ser) single nucleotide variant not provided [RCV001757133] Chr5:93588000 [GRCh38]
Chr5:92923706 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1212C>T (p.Arg404=) single nucleotide variant not provided [RCV001869719]|not specified [RCV001820365] Chr5:93593782 [GRCh38]
Chr5:92929488 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.351C>A (p.Asn117Lys) single nucleotide variant not provided [RCV001964370] Chr5:93585374 [GRCh38]
Chr5:92921080 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.114C>T (p.Gly38=) single nucleotide variant not provided [RCV001874451] Chr5:93585137 [GRCh38]
Chr5:92920843 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.197C>T (p.Thr66Met) single nucleotide variant not provided [RCV002005534] Chr5:93585220 [GRCh38]
Chr5:92920926 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.331A>G (p.Lys111Glu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001823039] Chr5:93585354 [GRCh38]
Chr5:92921060 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.859A>T (p.Met287Leu) single nucleotide variant not provided [RCV001884276] Chr5:93588312 [GRCh38]
Chr5:92924018 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.632ACA[1] (p.Asn212del) microsatellite not provided [RCV001996750] Chr5:93588083..93588085 [GRCh38]
Chr5:92923789..92923791 [GRCh37]
Chr5:5q15		 uncertain significance
NC_000005.9:g.(?_92920730)_(92929548_?)del deletion not provided [RCV001963232] Chr5:92920730..92929548 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.255G>C (p.Glu85Asp) single nucleotide variant not provided [RCV001995075] Chr5:93585278 [GRCh38]
Chr5:92920984 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.886A>G (p.Met296Val) single nucleotide variant not provided [RCV001957895] Chr5:93588339 [GRCh38]
Chr5:92924045 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.597dup (p.Thr200fs) duplication not provided [RCV001993227] Chr5:93588046..93588047 [GRCh38]
Chr5:92923752..92923753 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.1171del (p.Val391fs) deletion not provided [RCV002036697] Chr5:93593741 [GRCh38]
Chr5:92929447 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1013C>T (p.Ala338Val) single nucleotide variant not provided [RCV001989017] Chr5:93593583 [GRCh38]
Chr5:92929289 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.931G>A (p.Ala311Thr) single nucleotide variant not provided [RCV001999123] Chr5:93588384 [GRCh38]
Chr5:92924090 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.92GCG[3] (p.Gly34_Gly36del) microsatellite not provided [RCV002010137] Chr5:93585115..93585123 [GRCh38]
Chr5:92920821..92920829 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.32C>T (p.Pro11Leu) single nucleotide variant not provided [RCV001917336] Chr5:93585055 [GRCh38]
Chr5:92920761 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.131C>T (p.Ala44Val) single nucleotide variant not provided [RCV002031483] Chr5:93585154 [GRCh38]
Chr5:92920860 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.92GCG[9] (p.Gly34_Gly36dup) microsatellite not provided [RCV001957802] Chr5:93585114..93585115 [GRCh38]
Chr5:92920820..92920821 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.193G>A (p.Gly65Ser) single nucleotide variant not provided [RCV001915799] Chr5:93585216 [GRCh38]
Chr5:92920922 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.107_115dup (p.Gly36_Gly38dup) duplication not provided [RCV001976222] Chr5:93585124..93585125 [GRCh38]
Chr5:92920830..92920831 [GRCh37]
Chr5:5q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.834C>T (p.Ala278=) single nucleotide variant not provided [RCV002128574] Chr5:93588287 [GRCh38]
Chr5:92923993 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.231G>C (p.Ser77=) single nucleotide variant not provided [RCV002107657] Chr5:93585254 [GRCh38]
Chr5:92920960 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.519C>T (p.Leu173=) single nucleotide variant not provided [RCV002167161] Chr5:93587972 [GRCh38]
Chr5:92923678 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.891C>T (p.Asp297=) single nucleotide variant not provided [RCV002190797] Chr5:93588344 [GRCh38]
Chr5:92924050 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.464-19C>T single nucleotide variant not provided [RCV002148450] Chr5:93587898 [GRCh38]
Chr5:92923604 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.414C>T (p.Cys138=) single nucleotide variant not provided [RCV002216159] Chr5:93585437 [GRCh38]
Chr5:92921143 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.174C>A (p.Pro58=) single nucleotide variant not provided [RCV002216326] Chr5:93585197 [GRCh38]
Chr5:92920903 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.204G>A (p.Gly68=) single nucleotide variant not provided [RCV002116941] Chr5:93585227 [GRCh38]
Chr5:92920933 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.741C>T (p.Asp247=) single nucleotide variant not provided [RCV002094671] Chr5:93588194 [GRCh38]
Chr5:92923900 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.681C>T (p.Leu227=) single nucleotide variant not provided [RCV002214946] Chr5:93588134 [GRCh38]
Chr5:92923840 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.63C>A (p.Gly21=) single nucleotide variant not provided [RCV002187909] Chr5:93585086 [GRCh38]
Chr5:92920792 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.376A>C (p.Arg126=) single nucleotide variant not provided [RCV002141713] Chr5:93585399 [GRCh38]
Chr5:92921105 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1050C>T (p.Cys350=) single nucleotide variant not provided [RCV002120290] Chr5:93593620 [GRCh38]
Chr5:92929326 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1181T>G (p.Val394Gly) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002249111] Chr5:93593751 [GRCh38]
Chr5:92929457 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.279G>T (p.Ser93=) single nucleotide variant not provided [RCV002163615] Chr5:93585302 [GRCh38]
Chr5:92921008 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.867C>T (p.Ala289=) single nucleotide variant not provided [RCV002082043] Chr5:93588320 [GRCh38]
Chr5:92924026 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.811C>T (p.Leu271=) single nucleotide variant not provided [RCV002138142] Chr5:93588264 [GRCh38]
Chr5:92923970 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.351C>T (p.Asn117=) single nucleotide variant not provided [RCV002081596] Chr5:93585374 [GRCh38]
Chr5:92921080 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.465G>T (p.Ala155=) single nucleotide variant not provided [RCV002140630] Chr5:93587918 [GRCh38]
Chr5:92923624 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.57C>T (p.Asn19=) single nucleotide variant not provided [RCV002203611] Chr5:93585080 [GRCh38]
Chr5:92920786 [GRCh37]
Chr5:5q15		 likely benign
NC_000005.9:g.(?_92920730)_(92929548_?)dup duplication not provided [RCV003116410] Chr5:92920730..92929548 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.424C>G (p.Arg142Gly) single nucleotide variant See cases [RCV003156192] Chr5:93585447 [GRCh38]
Chr5:92921153 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.266G>A (p.Cys89Tyr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003148230] Chr5:93585289 [GRCh38]
Chr5:92920995 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.73C>G (p.Pro25Ala) single nucleotide variant not provided [RCV002248279] Chr5:93585096 [GRCh38]
Chr5:92920802 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.471G>T (p.Gln157His) single nucleotide variant not provided [RCV003129184] Chr5:93587924 [GRCh38]
Chr5:92923630 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.704G>T (p.Arg235Leu) single nucleotide variant Neurodevelopmental delay [RCV002274360] Chr5:93588157 [GRCh38]
Chr5:92923863 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.278C>T (p.Ser93Leu) single nucleotide variant Seizure [RCV002275466] Chr5:93585301 [GRCh38]
Chr5:92921007 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.335G>C (p.Arg112Thr) single nucleotide variant not provided [RCV002293121] Chr5:93585358 [GRCh38]
Chr5:92921064 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1A>C (p.Met1Leu) single nucleotide variant not provided [RCV002274628] Chr5:93585024 [GRCh38]
Chr5:92920730 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.391G>A (p.Asp131Asn) single nucleotide variant not provided [RCV002263385] Chr5:93585414 [GRCh38]
Chr5:92921120 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.952G>T (p.Glu318Ter) single nucleotide variant not provided [RCV002263386] Chr5:93588405 [GRCh38]
Chr5:92924111 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.427_429delinsTT (p.Lys144fs) indel not provided [RCV002276132] Chr5:93585450..93585452 [GRCh38]
Chr5:92921156..92921158 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.319A>G (p.Lys107Glu) single nucleotide variant not specified [RCV002285201] Chr5:93585342 [GRCh38]
Chr5:92921048 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.-1761A>G single nucleotide variant not provided [RCV002281245] Chr5:93583263 [GRCh38]
Chr5:92918969 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1077_1084del (p.Tyr360fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002287634] Chr5:93593644..93593651 [GRCh38]
Chr5:92929350..92929357 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.907C>T (p.Gln303Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002292714] Chr5:93588360 [GRCh38]
Chr5:92924066 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.448G>A (p.Gly150Ser) single nucleotide variant not provided [RCV003129080] Chr5:93585471 [GRCh38]
Chr5:92921177 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.85G>A (p.Ala29Thr) single nucleotide variant not provided [RCV003156422] Chr5:93585108 [GRCh38]
Chr5:92920814 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.265T>G (p.Cys89Gly) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002470479] Chr5:93585288 [GRCh38]
Chr5:92920994 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.307T>C (p.Cys103Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002471324] Chr5:93585330 [GRCh38]
Chr5:92921036 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.344G>T (p.Arg115Leu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002470454] Chr5:93585367 [GRCh38]
Chr5:92921073 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.49G>C (p.Gly17Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002470489]|not provided [RCV003775523] Chr5:93585072 [GRCh38]
Chr5:92920778 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.674G>C (p.Arg225Pro) single nucleotide variant not provided [RCV002467254] Chr5:93588127 [GRCh38]
Chr5:92923833 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.690C>T (p.Ala230=) single nucleotide variant not provided [RCV002469499] Chr5:93588143 [GRCh38]
Chr5:92923849 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.92_93delinsAA (p.Arg31Gln) indel not provided [RCV002301513] Chr5:93585115..93585116 [GRCh38]
Chr5:92920821..92920822 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.359A>G (p.Tyr120Cys) single nucleotide variant not provided [RCV002296040] Chr5:93585382 [GRCh38]
Chr5:92921088 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.361A>G (p.Thr121Ala) single nucleotide variant not provided [RCV002301334] Chr5:93585384 [GRCh38]
Chr5:92921090 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.645C>G (p.Gly215=) single nucleotide variant not provided [RCV003015208] Chr5:93588098 [GRCh38]
Chr5:92923804 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1155C>T (p.Ile385=) single nucleotide variant not provided [RCV002995296] Chr5:93593725 [GRCh38]
Chr5:92929431 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.495_496delinsAA (p.Pro166Thr) indel not provided [RCV002838530] Chr5:93587948..93587949 [GRCh38]
Chr5:92923654..92923655 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.110C>G (p.Ala37Gly) single nucleotide variant Inborn genetic diseases [RCV002905264]|not provided [RCV003574999] Chr5:93585133 [GRCh38]
Chr5:92920839 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.988T>G (p.Ser330Ala) single nucleotide variant not provided [RCV002843152] Chr5:93588441 [GRCh38]
Chr5:92924147 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.291_294dup (p.Gly99fs) duplication not provided [RCV002819908] Chr5:93585313..93585314 [GRCh38]
Chr5:92921019..92921020 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.788A>G (p.Asn263Ser) single nucleotide variant not provided [RCV003073951] Chr5:93588241 [GRCh38]
Chr5:92923947 [GRCh37]
Chr5:5q15		 benign|uncertain significance
NM_005654.6(NR2F1):c.184G>A (p.Ala62Thr) single nucleotide variant not provided [RCV002908706] Chr5:93585207 [GRCh38]
Chr5:92920913 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.89_133dup (p.Ala44_Gly45insAlaArgGlyGlyGlyGlyGlyAlaGlyGluGlnGlnGlnGlnAla) duplication not provided [RCV003032946] Chr5:93585103..93585104 [GRCh38]
Chr5:92920809..92920810 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.945C>T (p.Asp315=) single nucleotide variant not provided [RCV003039248] Chr5:93588398 [GRCh38]
Chr5:92924104 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1092C>T (p.Pro364=) single nucleotide variant not provided [RCV002923449] Chr5:93593662 [GRCh38]
Chr5:92929368 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002795906] Chr5:93585465 [GRCh38]
Chr5:92921171 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.112G>A (p.Gly38Ser) single nucleotide variant not provided [RCV003017883] Chr5:93585135 [GRCh38]
Chr5:92920841 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.726T>C (p.Asp242=) single nucleotide variant not provided [RCV002885675] Chr5:93588179 [GRCh38]
Chr5:92923885 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.121C>T (p.Gln41Ter) single nucleotide variant not provided [RCV003055101] Chr5:93585144 [GRCh38]
Chr5:92920850 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.14T>C (p.Val5Ala) single nucleotide variant Inborn genetic diseases [RCV002637138]|not provided [RCV002647418] Chr5:93585037 [GRCh38]
Chr5:92920743 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_005654.6(NR2F1):c.677T>G (p.Leu226Arg) single nucleotide variant not provided [RCV002510183] Chr5:93588130 [GRCh38]
Chr5:92923836 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.892C>A (p.His298Asn) single nucleotide variant not provided [RCV002761256] Chr5:93588345 [GRCh38]
Chr5:92924051 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1150G>A (p.Val384Ile) single nucleotide variant not provided [RCV002927178] Chr5:93593720 [GRCh38]
Chr5:92929426 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.594C>T (p.Tyr198=) single nucleotide variant not provided [RCV002953050] Chr5:93588047 [GRCh38]
Chr5:92923753 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.365G>A (p.Cys122Tyr) single nucleotide variant Inborn genetic diseases [RCV002692671]|not provided [RCV003228126] Chr5:93585388 [GRCh38]
Chr5:92921094 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.134G>C (p.Gly45Ala) single nucleotide variant not provided [RCV002572393] Chr5:93585157 [GRCh38]
Chr5:92920863 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.639T>A (p.Ile213=) single nucleotide variant not provided [RCV003008243] Chr5:93588092 [GRCh38]
Chr5:92923798 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1044G>T (p.Ser348=) single nucleotide variant not provided [RCV002643042] Chr5:93593614 [GRCh38]
Chr5:92929320 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.94_157del (p.Gly32fs) deletion Inborn genetic diseases [RCV002702241] Chr5:93585113..93585176 [GRCh38]
Chr5:92920819..92920882 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.463+5A>C single nucleotide variant not provided [RCV002624147] Chr5:93585491 [GRCh38]
Chr5:92921197 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.994G>A (p.Ala332Thr) single nucleotide variant not provided [RCV003057255] Chr5:93593564 [GRCh38]
Chr5:92929270 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.165G>A (p.Pro55=) single nucleotide variant not provided [RCV002643045] Chr5:93585188 [GRCh38]
Chr5:92920894 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.81G>A (p.Ala27=) single nucleotide variant not provided [RCV002642662] Chr5:93585104 [GRCh38]
Chr5:92920810 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.991+2T>A single nucleotide variant not provided [RCV002917269] Chr5:93588446 [GRCh38]
Chr5:92924152 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.687C>A (p.Ser229Arg) single nucleotide variant not provided [RCV002958493] Chr5:93588140 [GRCh38]
Chr5:92923846 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.410A>C (p.Gln137Pro) single nucleotide variant not provided [RCV003023233] Chr5:93585433 [GRCh38]
Chr5:92921139 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.117G>C (p.Glu39Asp) single nucleotide variant not provided [RCV002710493] Chr5:93585140 [GRCh38]
Chr5:92920846 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.58C>T (p.Pro20Ser) single nucleotide variant not provided [RCV003040550] Chr5:93585081 [GRCh38]
Chr5:92920787 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.71A>G (p.Asn24Ser) single nucleotide variant not provided [RCV003058166] Chr5:93585094 [GRCh38]
Chr5:92920800 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.233G>C (p.Gly78Ala) single nucleotide variant not provided [RCV002918733] Chr5:93585256 [GRCh38]
Chr5:92920962 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1140G>A (p.Val380=) single nucleotide variant not provided [RCV003084481] Chr5:93593710 [GRCh38]
Chr5:92929416 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.517C>T (p.Leu173Phe) single nucleotide variant not provided [RCV002650085] Chr5:93587970 [GRCh38]
Chr5:92923676 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.940G>C (p.Val314Leu) single nucleotide variant not provided [RCV003064953] Chr5:93588393 [GRCh38]
Chr5:92924099 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.463+13_463+15del microsatellite not provided [RCV003031006] Chr5:93585495..93585497 [GRCh38]
Chr5:92921201..92921203 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.17G>A (p.Ser6Asn) single nucleotide variant not provided [RCV002834148] Chr5:93585040 [GRCh38]
Chr5:92920746 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.816C>T (p.His272=) single nucleotide variant not provided [RCV003009654] Chr5:93588269 [GRCh38]
Chr5:92923975 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.92GCG[5] (p.Gly36del) microsatellite Inborn genetic diseases [RCV002936872]|NR2F1-related condition [RCV003906596]|not provided [RCV003575009] Chr5:93585115..93585117 [GRCh38]
Chr5:92920821..92920823 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.90C>A (p.Ala30=) single nucleotide variant not provided [RCV002806420] Chr5:93585113 [GRCh38]
Chr5:92920819 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.92GCG[8] (p.Gly36_Ala37insGlyGly) microsatellite not provided [RCV003062848] Chr5:93585114..93585115 [GRCh38]
Chr5:92920820..92920821 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1146C>T (p.Ser382=) single nucleotide variant not provided [RCV002579048] Chr5:93593716 [GRCh38]
Chr5:92929422 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.986C>T (p.Thr329Met) single nucleotide variant not provided [RCV003062004] Chr5:93588439 [GRCh38]
Chr5:92924145 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.86C>T (p.Ala29Val) single nucleotide variant not provided [RCV002649692] Chr5:93585109 [GRCh38]
Chr5:92920815 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.981G>A (p.Leu327=) single nucleotide variant not provided [RCV002605079] Chr5:93588434 [GRCh38]
Chr5:92924140 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.179C>T (p.Ala60Val) single nucleotide variant Inborn genetic diseases [RCV002722925] Chr5:93585202 [GRCh38]
Chr5:92920908 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1017C>G (p.Ala339=) single nucleotide variant not provided [RCV002635802] Chr5:93593587 [GRCh38]
Chr5:92929293 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.463+7A>G single nucleotide variant not provided [RCV002606902] Chr5:93585493 [GRCh38]
Chr5:92921199 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.852C>T (p.Ala284=) single nucleotide variant not provided [RCV003073238] Chr5:93588305 [GRCh38]
Chr5:92924011 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.75C>T (p.Pro25=) single nucleotide variant not provided [RCV002606107] Chr5:93585098 [GRCh38]
Chr5:92920804 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.35A>G (p.Gln12Arg) single nucleotide variant not provided [RCV002633298] Chr5:93585058 [GRCh38]
Chr5:92920764 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.114C>A (p.Gly38=) single nucleotide variant not provided [RCV002608945] Chr5:93585137 [GRCh38]
Chr5:92920843 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.79G>C (p.Ala27Pro) single nucleotide variant not provided [RCV002633756] Chr5:93585102 [GRCh38]
Chr5:92920808 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1023C>G (p.Ile341Met) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003131828] Chr5:93593593 [GRCh38]
Chr5:92929299 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.99C>A (p.Gly33=) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003133072] Chr5:93585122 [GRCh38]
Chr5:92920828 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.5C>T (p.Ala2Val) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003133073] Chr5:93585028 [GRCh38]
Chr5:92920734 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.463+6T>C single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003226035] Chr5:93585492 [GRCh38]
Chr5:92921198 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.616C>T (p.Gln206Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003142654] Chr5:93588069 [GRCh38]
Chr5:92923775 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.395A>G (p.Gln132Arg) single nucleotide variant not provided [RCV003225288] Chr5:93585418 [GRCh38]
Chr5:92921124 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1 copy number loss Intellectual disability, autosomal dominant 20 [RCV003327617] Chr5:88189536..93784597 [GRCh38]
Chr5:5q14.3-15		 pathogenic
NM_005654.6(NR2F1):c.462_463+19del deletion NR2F1-related condition [RCV003393246] Chr5:93585485..93585505 [GRCh38]
Chr5:92921191..92921211 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.547del (p.Cys183fs) deletion Inborn genetic diseases [RCV003362234] Chr5:93588000 [GRCh38]
Chr5:92923706 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.296G>T (p.Gly99Val) single nucleotide variant not provided [RCV003571244] Chr5:93585319 [GRCh38]
Chr5:92921025 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1024G>C (p.Glu342Gln) single nucleotide variant not provided [RCV003443225] Chr5:93593594 [GRCh38]
Chr5:92929300 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.3G>A (p.Met1Ile) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003482194] Chr5:93585026 [GRCh38]
Chr5:92920732 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.559G>C (p.Gly187Arg) single nucleotide variant NR2F1-related condition [RCV003392961] Chr5:93588012 [GRCh38]
Chr5:92923718 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.764C>G (p.Thr255Ser) single nucleotide variant not provided [RCV003738657] Chr5:93588217 [GRCh38]
Chr5:92923923 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.597del (p.Thr200fs) deletion not provided [RCV003545156] Chr5:93588047 [GRCh38]
Chr5:92923753 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.453G>A (p.Met151Ile) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003883300] Chr5:93585476 [GRCh38]
Chr5:92921182 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.393C>T (p.Asp131=) single nucleotide variant not provided [RCV003879321] Chr5:93585416 [GRCh38]
Chr5:92921122 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.975C>T (p.Ile325=) single nucleotide variant not provided [RCV003686953] Chr5:93588428 [GRCh38]
Chr5:92924134 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1205T>G (p.Leu402Arg) single nucleotide variant not provided [RCV003547397] Chr5:93593775 [GRCh38]
Chr5:92929481 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.340G>C (p.Val114Leu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003494604] Chr5:93585363 [GRCh38]
Chr5:92921069 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.464-20TC[2] microsatellite not provided [RCV003738774] Chr5:93587897..93587898 [GRCh38]
Chr5:92923603..92923604 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.53G>T (p.Gly18Val) single nucleotide variant not provided [RCV003695608] Chr5:93585076 [GRCh38]
Chr5:92920782 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.894C>T (p.His298=) single nucleotide variant not provided [RCV003575751] Chr5:93588347 [GRCh38]
Chr5:92924053 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1065C>T (p.Tyr355=) single nucleotide variant NR2F1-related condition [RCV003966628]|not provided [RCV003739581] Chr5:93593635 [GRCh38]
Chr5:92929341 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.921G>C (p.Glu307Asp) single nucleotide variant not provided [RCV003578801] Chr5:93588374 [GRCh38]
Chr5:92924080 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.992-6G>T single nucleotide variant not provided [RCV003546296] Chr5:93593556 [GRCh38]
Chr5:92929262 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.840C>T (p.Ala280=) single nucleotide variant not provided [RCV003878671] Chr5:93588293 [GRCh38]
Chr5:92923999 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1134C>T (p.Arg378=) single nucleotide variant not provided [RCV003547595] Chr5:93593704 [GRCh38]
Chr5:92929410 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.173C>A (p.Pro58His) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003493108] Chr5:93585196 [GRCh38]
Chr5:92920902 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1096C>T (p.Arg366Cys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003883305] Chr5:93593666 [GRCh38]
Chr5:92929372 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.246G>A (p.Gln82=) single nucleotide variant not provided [RCV003852272] Chr5:93585269 [GRCh38]
Chr5:92920975 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.348del (p.Asn117fs) deletion not provided [RCV003716860] Chr5:93585370 [GRCh38]
Chr5:92921076 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.240_255del (p.Gln81fs) deletion not provided [RCV003557749] Chr5:93585260..93585275 [GRCh38]
Chr5:92920966..92920981 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.76G>T (p.Ala26Ser) single nucleotide variant not provided [RCV003701324] Chr5:93585099 [GRCh38]
Chr5:92920805 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1171G>A (p.Val391Ile) single nucleotide variant not provided [RCV003670946] Chr5:93593741 [GRCh38]
Chr5:92929447 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1262A>C (p.Gln421Pro) single nucleotide variant not provided [RCV003832581] Chr5:93593832 [GRCh38]
Chr5:92929538 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.29A>G (p.Asp10Gly) single nucleotide variant not provided [RCV003700641] Chr5:93585052 [GRCh38]
Chr5:92920758 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.303C>T (p.Phe101=) single nucleotide variant not provided [RCV003702730] Chr5:93585326 [GRCh38]
Chr5:92921032 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.464-7_464-6del deletion not provided [RCV003561758] Chr5:93587907..93587908 [GRCh38]
Chr5:92923613..92923614 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1086C>T (p.Asn362=) single nucleotide variant not provided [RCV003668373] Chr5:93593656 [GRCh38]
Chr5:92929362 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.191C>T (p.Pro64Leu) single nucleotide variant not provided [RCV003558223] Chr5:93585214 [GRCh38]
Chr5:92920920 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1263G>A (p.Gln421=) single nucleotide variant not provided [RCV003559200] Chr5:93593833 [GRCh38]
Chr5:92929539 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.60C>T (p.Pro20=) single nucleotide variant not provided [RCV003839274] Chr5:93585083 [GRCh38]
Chr5:92920789 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1212C>A (p.Arg404=) single nucleotide variant not provided [RCV003672082] Chr5:93593782 [GRCh38]
Chr5:92929488 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.803C>A (p.Ser268Tyr) single nucleotide variant not provided [RCV003855918] Chr5:93588256 [GRCh38]
Chr5:92923962 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.59C>A (p.Pro20His) single nucleotide variant not provided [RCV003725948] Chr5:93585082 [GRCh38]
Chr5:92920788 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.123G>A (p.Gln41=) single nucleotide variant not provided [RCV003723550] Chr5:93585146 [GRCh38]
Chr5:92920852 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1111C>T (p.Leu371=) single nucleotide variant not provided [RCV003701001] Chr5:93593681 [GRCh38]
Chr5:92929387 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.711C>G (p.Ile237Met) single nucleotide variant not provided [RCV003677959] Chr5:93588164 [GRCh38]
Chr5:92923870 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.973A>G (p.Ile325Val) single nucleotide variant not provided [RCV003567963] Chr5:93588426 [GRCh38]
Chr5:92924132 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.991+9G>A single nucleotide variant not provided [RCV003727074] Chr5:93588453 [GRCh38]
Chr5:92924159 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.585C>G (p.Ala195=) single nucleotide variant not provided [RCV003732970] Chr5:93588038 [GRCh38]
Chr5:92923744 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.142_150del (p.Ala48_His50del) deletion not provided [RCV003684208] Chr5:93585164..93585172 [GRCh38]
Chr5:92920870..92920878 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.282C>T (p.Ser94=) single nucleotide variant not provided [RCV003864072] Chr5:93585305 [GRCh38]
Chr5:92921011 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5q14.3-15(chr5:91884840-93976422)x1 copy number loss not specified [RCV003986567] Chr5:91884840..93976422 [GRCh37]
Chr5:5q14.3-15		 pathogenic
NM_005654.6(NR2F1):c.137C>G (p.Ser46Trp) single nucleotide variant not provided [RCV003678135] Chr5:93585160 [GRCh38]
Chr5:92920866 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.184G>C (p.Ala62Pro) single nucleotide variant not provided [RCV003670611] Chr5:93585207 [GRCh38]
Chr5:92920913 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.843C>T (p.Gly281=) single nucleotide variant not provided [RCV003719911] Chr5:93588296 [GRCh38]
Chr5:92924002 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5q15(chr5:92845157-93475376)x1 copy number loss not specified [RCV003986549] Chr5:92845157..93475376 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.92GCG[4] (p.Gly35_Gly36del) microsatellite not provided [RCV003731757] Chr5:93585115..93585120 [GRCh38]
Chr5:92920821..92920826 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.1231A>G (p.Ser411Gly) single nucleotide variant not provided [RCV003551282] Chr5:93593801 [GRCh38]
Chr5:92929507 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.220C>T (p.Pro74Ser) single nucleotide variant not provided [RCV003846008] Chr5:93585243 [GRCh38]
Chr5:92920949 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.901A>G (p.Ile301Val) single nucleotide variant not provided [RCV003712095] Chr5:93588354 [GRCh38]
Chr5:92924060 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.717C>G (p.Phe239Leu) single nucleotide variant not provided [RCV003566206] Chr5:93588170 [GRCh38]
Chr5:92923876 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.992-19C>T single nucleotide variant not provided [RCV003550346] Chr5:93593543 [GRCh38]
Chr5:92929249 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1192C>G (p.Pro398Ala) single nucleotide variant not provided [RCV003680093] Chr5:93593762 [GRCh38]
Chr5:92929468 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.384T>C (p.Cys128=) single nucleotide variant not provided [RCV003859710] Chr5:93585407 [GRCh38]
Chr5:92921113 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.991+17_991+38dup duplication not provided [RCV003819960] Chr5:93588458..93588459 [GRCh38]
Chr5:92924164..92924165 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.284G>A (p.Gly95Asp) single nucleotide variant NR2F1-related condition [RCV003961562] Chr5:93585307 [GRCh38]
Chr5:92921013 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.1205_1206del (p.Leu402fs) microsatellite Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003387581] Chr5:93593772..93593773 [GRCh38]
Chr5:92929478..92929479 [GRCh37]
Chr5:5q15		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:909
Count of miRNA genes:595
Interacting mature miRNAs:666
Transcripts:ENST00000327111, ENST00000502982, ENST00000506162, ENST00000512697
Prediction methods:Microtar, 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.

Markers in Region
SHGC-12323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,929,573 - 92,929,773UniSTSGRCh37
Build 36592,955,329 - 92,955,529RGDNCBI36
Celera588,788,971 - 88,789,171RGD
Cytogenetic Map5q14UniSTS
HuRef588,102,524 - 88,102,724UniSTS
TNG Radiation Hybrid Map541913.0UniSTS
GeneMap99-G3 RH Map53780.0UniSTS
NR2F1_3233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,929,329 - 92,929,984UniSTSGRCh37
Build 36592,955,085 - 92,955,740RGDNCBI36
Celera588,788,727 - 88,789,382RGD
HuRef588,102,280 - 88,102,935UniSTS
NR2F1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,923,711 - 92,924,083UniSTSGRCh37
Celera588,783,109 - 88,783,481UniSTS
HuRef588,096,660 - 88,097,032UniSTS


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 visual system adipose tissue appendage entire extraembryonic component
High 2
Medium 1540 285 1355 168 177 170 763 799 3451 253 968 1401 1 605 635 1
Low 870 1484 361 442 446 291 2714 274 277 151 465 189 162 1 599 1381 3
Below cutoff 23 1135 7 12 763 4 860 1114 6 12 18 15 10 770 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000327111   ⟹   ENSP00000325819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,583,222 - 93,594,611 (+)Ensembl
RefSeq Acc Id: ENST00000502982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,587,460 - 93,594,531 (+)Ensembl
RefSeq Acc Id: ENST00000506162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,591,973 - 93,594,143 (+)Ensembl
RefSeq Acc Id: ENST00000512697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,587,101 - 93,594,540 (+)Ensembl
RefSeq Acc Id: ENST00000615873   ⟹   ENSP00000481517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,585,024 - 93,594,517 (+)Ensembl
RefSeq Acc Id: ENST00000647447   ⟹   ENSP00000495740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,585,024 - 93,593,842 (+)Ensembl
RefSeq Acc Id: ENST00000700211   ⟹   ENSP00000514862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,585,735 - 93,594,280 (+)Ensembl
RefSeq Acc Id: NM_001410754   ⟹   NP_001397683
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,587,099 - 93,594,611 (+)NCBI
T2T-CHM13v2.0594,071,161 - 94,078,673 (+)NCBI
RefSeq Acc Id: NM_005654   ⟹   NP_005645
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,583,222 - 93,594,611 (+)NCBI
GRCh37592,919,043 - 92,930,319 (+)NCBI
Build 36592,944,799 - 92,955,544 (+)NCBI Archive
HuRef588,092,169 - 88,102,739 (+)ENTREZGENE
CHM1_1592,351,749 - 92,363,018 (+)NCBI
T2T-CHM13v2.0594,067,283 - 94,078,673 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_005645   ⟸   NM_005654
- Peptide Label: isoform 1
- UniProtKB: P10589 (UniProtKB/Swiss-Prot),   F1DAL6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000481517   ⟸   ENST00000615873
RefSeq Acc Id: ENSP00000325819   ⟸   ENST00000327111
RefSeq Acc Id: ENSP00000495740   ⟸   ENST00000647447
RefSeq Acc Id: ENSP00000514862   ⟸   ENST00000700211
RefSeq Acc Id: NP_001397683   ⟸   NM_001410754
- Peptide Label: isoform 2
- UniProtKB: A0A8V8TQQ6 (UniProtKB/TrEMBL)
Protein Domains
NR LBD   Nuclear receptor

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P10589-F1-model_v2 AlphaFold P10589 1-423 view protein structure

Promoters
RGD ID:6803406
Promoter ID:HG_KWN:50664
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:OTTHUMT00000239293
Position:
Human AssemblyChrPosition (strand)Source
Build 36592,944,566 - 92,946,817 (+)MPROMDB
RGD ID:6870084
Promoter ID:EPDNEW_H8207
Type:initiation region
Name:NR2F1_1
Description:nuclear receptor subfamily 2 group F member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8208  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,583,224 - 93,583,284EPDNEW
RGD ID:6870086
Promoter ID:EPDNEW_H8208
Type:initiation region
Name:NR2F1_2
Description:nuclear receptor subfamily 2 group F member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8207  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,584,557 - 93,584,617EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7975 AgrOrtholog
COSMIC NR2F1 COSMIC
Ensembl Genes ENSG00000175745 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000327111 ENTREZGENE
  ENST00000327111.8 UniProtKB/Swiss-Prot
  ENST00000502982.2 UniProtKB/TrEMBL
  ENST00000512697 ENTREZGENE
  ENST00000512697.2 UniProtKB/TrEMBL
  ENST00000615873.2 UniProtKB/TrEMBL
  ENST00000647447.1 UniProtKB/TrEMBL
  ENST00000700211.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.565.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.50.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000175745 GTEx
HGNC ID HGNC:7975 ENTREZGENE
Human Proteome Map NR2F1 Human Proteome Map
InterPro NHR-like_dom_sf 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:7025 UniProtKB/Swiss-Prot
NCBI Gene 7025 ENTREZGENE
OMIM 132890 OMIM
PANTHER COUP TRANSCRIPTION FACTOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR HORMONE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hormone_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31758 PharmGKB
PRINTS COUPTNFACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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 Glucocorticoid receptor-like (DNA-binding domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48508 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8V8TPV3_HUMAN UniProtKB/TrEMBL
  A0A8V8TQQ6 ENTREZGENE, UniProtKB/TrEMBL
  COT1_HUMAN UniProtKB/Swiss-Prot
  F1DAL6 ENTREZGENE, UniProtKB/TrEMBL
  F1DAL7_HUMAN UniProtKB/TrEMBL
  F1DAL9_HUMAN UniProtKB/TrEMBL
  P10589 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NR2F1  nuclear receptor subfamily 2 group F member 1    nuclear receptor subfamily 2, group F, member 1  Symbol and/or name change 5135510 APPROVED