CYP11B2 (cytochrome P450 family 11 subfamily B member 2) - Rat Genome Database

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Gene: CYP11B2 (cytochrome P450 family 11 subfamily B member 2) Homo sapiens
Analyze
Symbol: CYP11B2
Name: cytochrome P450 family 11 subfamily B member 2
RGD ID: 736494
HGNC Page HGNC
Description: Exhibits heme binding activity and steroid 11-beta-monooxygenase activity. Involved in several processes, including monovalent inorganic cation homeostasis; primary alcohol biosynthetic process; and regulation of blood volume by renal aldosterone. Localizes to mitochondrion. Implicated in corticosterone methyloxidase deficiency 1; diabetes mellitus (multiple); dilated cardiomyopathy 1H; hypertension (multiple); and primary hyperaldosteronism. Biomarker of adrenal cortical adenoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALDOS; aldosterone synthase; aldosterone-synthesizing enzyme; corticosterone 18-monooxygenase, CYP11B2; CPN2; CYP11B; CYP11BL; CYPXIB2; cytochrome P-450Aldo; cytochrome P-450C18; cytochrome P450 11B2, mitochondrial; cytochrome P450, family 11, subfamily B, polypeptide 2; cytochrome p450, subfamily 11b, polypeptide 2; cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2; mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2; P-450C18; P450aldo; P450C18; steroid 11-beta-hydroxylase, CYP11B2; steroid 11-beta-monooxygenase; steroid 11-beta/18-hydroxylase; steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo
RGD Orthologs
Mouse
Rat
Dog
Pig
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
GRCh38.p13 Ensembl8142,910,559 - 142,917,843 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,910,559 - 142,917,843 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,991,975 - 143,999,259 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,988,977 - 143,996,261 (-)NCBINCBI36hg18NCBI36
Build 348143,988,976 - 143,996,261NCBI
Celera8140,301,421 - 140,308,694 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,244,244 - 139,251,515 (-)NCBIHuRef
CHM1_18144,032,236 - 144,039,525 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
11-deoxycorticosterone  (EXP)
11-deoxycortisol  (EXP)
18-Hydroxycortisol  (EXP)
18-Oxocortisol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3',4,4',5-Pentachlorobiphenyl  (EXP)
2,3,3',4,4',5-Hexachlorobiphenyl  (EXP)
2,3,7,8-tetrabromodibenzodioxine  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-dibromophenol  (EXP)
2,6-dibromophenol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (EXP)
3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol  (EXP)
3,4,5,3',4',5'-Hexachlorobiphenyl  (EXP)
4-(5,6,7,8-tetrahydroimidazo[1,5-a]pyridin-5-yl)benzonitrile  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acenaphthenes  (EXP)
Acetyl tributyl citrate  (EXP)
aldehydo-D-glucose  (ISO)
aldosterone  (EXP,ISO)
alternariol  (EXP)
ammonium chloride  (ISO)
amoxicillin  (EXP)
androgen antagonist  (ISO)
Bay-K-8644  (EXP)
benazepril  (EXP)
benidipine  (EXP)
benzo[a]pyrene  (EXP)
benzofurans  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
C60 fullerene  (ISO)
caffeine  (ISO)
calmidazolium  (EXP)
candesartan  (EXP,ISO)
Candesartan cilexetil  (ISO)
carbamazepine  (EXP)
chlorohydrocarbon  (EXP)
colforsin daropate hydrochloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (EXP)
cyproconazole  (ISO)
D-glucose  (ISO)
deoxynivalenol  (EXP)
diisononyl phthalate  (ISO)
dimethyl sulfoxide  (ISO)
dipentyl phthalate  (ISO)
dutasteride  (EXP)
endosulfan  (ISO)
enniatin  (EXP)
epoxiconazole  (ISO)
erythromycin A  (EXP)
gamma-hexachlorocyclohexane  (EXP)
glucose  (ISO)
glycyrrhizinic acid  (ISO)
hydrochlorothiazide  (ISO)
imidapril  (EXP)
irbesartan  (EXP)
ketoconazole  (EXP)
KN-93  (EXP)
Methandrostenolone  (EXP)
methylmercury chloride  (EXP)
Mibefradil  (EXP)
Mitotane  (EXP)
mycotoxin  (EXP)
N-acetyl-L-cysteine  (EXP)
naringin  (EXP)
nitroglycerin  (ISO)
perflubron  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenylephrine  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
potassium atom  (EXP,ISO)
potassium chloride  (EXP)
potassium dichromate  (ISO)
proanthocyanidin  (EXP)
rotenone  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP)
sodium atom  (EXP)
sodium chloride  (ISO)
spironolactone  (ISO)
streptozocin  (ISO)
testosterone  (EXP)
torasemide  (ISO)
torcetrapib  (EXP)
tributylstannane  (EXP)
triphenylstannane  (EXP)
Triptolide  (EXP)
tris(2-chloroethyl) phosphate  (EXP)
valproic acid  (EXP)
valsartan  (ISO)
vitamin E  (ISO)

References

References - curated
1. Bibeau K, etal., Am J Physiol Regul Integr Comp Physiol. 2010 Apr;298(4):R899-911. Epub 2009 Nov 18.
2. Davies E, etal., Hypertension. 1999 Feb;33(2):703-7.
3. Fallo F, etal., Eur J Endocrinol. 2002 Dec;147(6):795-802.
4. Faroqui S, etal., Am J Physiol Renal Physiol. 2006 Aug;291(2):F322-31. Epub 2006 Feb 21.
5. Fiebeler A, etal., Circulation. 2005 Jun 14;111(23):3087-94. Epub 2005 Jun 6.
6. Fujisawa G, etal., Transl Res. 2006 Sep;148(3):149-56.
7. Garnier A, etal., Circulation. 2004 Sep 28;110(13):1819-25. Epub 2004 Sep 13.
8. GOA_HUMAN data from the GO Consortium
9. Gomez-Sanchez EP, etal., Exp Physiol. 2010 Jan;95(1):120-30. Epub 2009 Oct 16.
10. Huang BS, etal., Am J Physiol Regul Integr Comp Physiol. 2008 Jul;295(1):R166-72. Epub 2008 May 21.
11. Huang BS, etal., Cardiovasc Res. 2009 Feb 15;81(3):574-81. Epub 2008 Aug 8.
12. Keavney B, etal., J Clin Endocrinol Metab. 2005 Feb;90(2):1072-7. Epub 2004 Nov 2.
13. KEGG
14. Ko GJ, etal., Nephrology (Carlton). 2008 Dec;13(6):492-9. Epub 2008 Sep 1.
15. Kupari M, etal., Circulation. 1998 Feb 17;97(6):569-75.
16. Lifton RP, etal., Nature. 1992 Jan 16;355(6357):262-5.
17. Lloyd-MacGilp SA, etal., Am J Physiol Endocrinol Metab 2002 Mar;282(3):E608-17.
18. OMIM Disease Annotation Pipeline
19. Ortlepp JR, etal., Am Heart J. 2001 Apr;141(4):671-6.
20. Pascoe L, etal., Proc Natl Acad Sci U S A. 1992 Jun 1;89(11):4996-5000.
21. Patel R, etal., J Mol Cell Cardiol. 2000 Dec;32(12):2369-77.
22. Payne AH and Hales DB, Endocr Rev. 2004 Dec;25(6):947-70.
23. Pipeline to import KEGG annotations from KEGG into RGD
24. Pipeline to import SMPDB annotations from SMPDB into RGD
25. Prasad P, etal., BMC Med Genet. 2006 May 3;7:42.
26. Ranade K, etal., Proc Natl Acad Sci U S A. 2001 Nov 6;98(23):13219-24. Epub 2001 Oct 30.
27. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. RGD automated import pipeline for gene-chemical interactions
29. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. Russo P, etal., Am J Hypertens. 2007 Feb;20(2):218-22.
31. Safar ME, etal., J Hypertens. 2005 Jun;23(6):1159-66.
32. Shojaati K, etal., Kidney Int. 2004 Dec;66(6):2322-8.
33. Taira M, etal., Eur J Pharmacol. 2008 Jul 28;589(1-3):264-71. Epub 2008 Jun 10.
34. Tanaka H, etal., Yakugaku Zasshi. 2009 Jul;129(7):871-9.
35. Tiago AD, etal., Cardiovasc Res. 2002 Jun;54(3):584-9.
36. Veeraveedu PT, etal., Eur J Pharmacol. 2008 Feb 26;581(1-2):121-31. Epub 2007 Nov 28.
Additional References at PubMed
PMID:1303253   PMID:1346492   PMID:1518866   PMID:1741400   PMID:1775135   PMID:2256920   PMID:2592361   PMID:3872685   PMID:7792802   PMID:8372604   PMID:8439335   PMID:8954040  
PMID:9177280   PMID:9360501   PMID:9506770   PMID:9625333   PMID:9703385   PMID:9814506   PMID:9838244   PMID:9931115   PMID:10371693   PMID:10391209   PMID:10391210   PMID:10411633  
PMID:10902803   PMID:11076863   PMID:11116113   PMID:11238478   PMID:11245725   PMID:11288810   PMID:11325068   PMID:11422106   PMID:11422735   PMID:11447495   PMID:11518842   PMID:11587161  
PMID:11696658   PMID:11696688   PMID:11711521   PMID:11711524   PMID:11725161   PMID:11728005   PMID:11728946   PMID:11841224   PMID:11856349   PMID:11903322   PMID:11910301   PMID:11923700  
PMID:11932209   PMID:11967817   PMID:12022239   PMID:12065207   PMID:12107246   PMID:12133420   PMID:12137808   PMID:12161536   PMID:12172317   PMID:12193581   PMID:12195120   PMID:12205735  
PMID:12213905   PMID:12376254   PMID:12391843   PMID:12444540   PMID:12446192   PMID:12446468   PMID:12477932   PMID:12544440   PMID:12544508   PMID:12611423   PMID:12624609   PMID:12627873  
PMID:12746403   PMID:12783697   PMID:12788845   PMID:12788848   PMID:12817181   PMID:12832734   PMID:14508191   PMID:14530292   PMID:14614232   PMID:14643573   PMID:14704730   PMID:14736447  
PMID:15055249   PMID:15062555   PMID:15097233   PMID:15102677   PMID:15128046   PMID:15135254   PMID:15223724   PMID:15230231   PMID:15238568   PMID:15272911   PMID:15361760   PMID:15378162  
PMID:15479186   PMID:15505931   PMID:15507509   PMID:15532370   PMID:15545843   PMID:15573760   PMID:15583997   PMID:15600184   PMID:15611122   PMID:15614025   PMID:15643128   PMID:15662219  
PMID:15699546   PMID:15824464   PMID:15882548   PMID:15894890   PMID:15914614   PMID:16078594   PMID:16080804   PMID:16080805   PMID:16110193   PMID:16126185   PMID:16207322   PMID:16208140  
PMID:16303227   PMID:16396990   PMID:16468060   PMID:16485730   PMID:16580565   PMID:16615274   PMID:16638864   PMID:16714246   PMID:16759311   PMID:16765146   PMID:16767667   PMID:16780672  
PMID:16796847   PMID:16893516   PMID:16979018   PMID:16984984   PMID:17003099   PMID:17075029   PMID:17143166   PMID:17190732   PMID:17273158   PMID:17296872   PMID:17318792   PMID:17334527  
PMID:17334644   PMID:17383306   PMID:17407071   PMID:17519002   PMID:17531119   PMID:17546276   PMID:17631084   PMID:17633457   PMID:17651452   PMID:17664852   PMID:17698557   PMID:17762647  
PMID:17851694   PMID:17980006   PMID:17984617   PMID:17987391   PMID:18192839   PMID:18202594   PMID:18260840   PMID:18260994   PMID:18397978   PMID:18413308   PMID:18446309   PMID:18636124  
PMID:18638595   PMID:18660489   PMID:18710464   PMID:18773126   PMID:18855530   PMID:18856058   PMID:18974272   PMID:19026620   PMID:19093739   PMID:19112833   PMID:19116236   PMID:19117407  
PMID:19151144   PMID:19158234   PMID:19166692   PMID:19243623   PMID:19253715   PMID:19254215   PMID:19262476   PMID:19332265   PMID:19342457   PMID:19343046   PMID:19407459   PMID:19418629  
PMID:19609286   PMID:19729965   PMID:19776632   PMID:19779464   PMID:19786005   PMID:19820005   PMID:19853701   PMID:19913121   PMID:19948975   PMID:19956635   PMID:20094057   PMID:20097716  
PMID:20123934   PMID:20176774   PMID:20182453   PMID:20193236   PMID:20193392   PMID:20214802   PMID:20224556   PMID:20300066   PMID:20339375   PMID:20381197   PMID:20413672   PMID:20416077  
PMID:20486282   PMID:20494601   PMID:20535141   PMID:20537417   PMID:20560800   PMID:20598712   PMID:20628086   PMID:20634641   PMID:20659024   PMID:20662731   PMID:20708777   PMID:20808686  
PMID:20831027   PMID:20877624   PMID:20878543   PMID:20966514   PMID:21092623   PMID:21106862   PMID:21125974   PMID:21127960   PMID:21163122   PMID:21164264   PMID:21228735   PMID:21239432  
PMID:21269059   PMID:21357309   PMID:21476902   PMID:21625068   PMID:21682760   PMID:21777344   PMID:21846681   PMID:21873635   PMID:22083159   PMID:22134143   PMID:22156739   PMID:22217843  
PMID:22311496   PMID:22331364   PMID:22508051   PMID:22650983   PMID:22652909   PMID:22801770   PMID:22885098   PMID:23023242   PMID:23133610   PMID:23135028   PMID:23150505   PMID:23204185  
PMID:23209837   PMID:23257211   PMID:23257735   PMID:23275203   PMID:23322723   PMID:23443813   PMID:23479071   PMID:23490082   PMID:23535359   PMID:23681285   PMID:23701507   PMID:23748625  
PMID:23936266   PMID:23950878   PMID:24015270   PMID:24388430   PMID:24423307   PMID:24472523   PMID:24549414   PMID:24599807   PMID:24837548   PMID:24842915   PMID:25102047   PMID:25208931  
PMID:25351194   PMID:25354523   PMID:25504670   PMID:25572238   PMID:25768006   PMID:25890613   PMID:25917967   PMID:25966076   PMID:26066897   PMID:26200036   PMID:26222001   PMID:26280318  
PMID:26305278   PMID:26556555   PMID:26686590   PMID:26765578   PMID:26941570   PMID:27009287   PMID:27149293   PMID:27754862   PMID:27781210   PMID:27793677   PMID:27935319   PMID:28017963  
PMID:28078278   PMID:28190867   PMID:28319085   PMID:28355486   PMID:28540892   PMID:28566337   PMID:28625318   PMID:28692307   PMID:28953657   PMID:29202495   PMID:29229168   PMID:29523271  
PMID:29627490   PMID:29665181   PMID:29739797   PMID:30529851   PMID:30561227   PMID:30695674   PMID:30737933   PMID:30974191   PMID:31296661   PMID:31302112   PMID:31646588   PMID:31935507  
PMID:32289837   PMID:32540969   PMID:33235094  


Genomics

Comparative Map Data
CYP11B2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,910,559 - 142,917,843 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,910,559 - 142,917,843 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,991,975 - 143,999,259 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,988,977 - 143,996,261 (-)NCBINCBI36hg18NCBI36
Build 348143,988,976 - 143,996,261NCBI
Celera8140,301,421 - 140,308,694 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,244,244 - 139,251,515 (-)NCBIHuRef
CHM1_18144,032,236 - 144,039,525 (-)NCBICHM1_1
Cyp11b2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391574,722,467 - 74,728,080 (-)NCBIGRCm39mm39
GRCm39 Ensembl1574,722,859 - 74,728,167 (-)Ensembl
GRCm381574,850,618 - 74,856,231 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1574,851,010 - 74,856,318 (-)EnsemblGRCm38mm10GRCm38
MGSCv371574,681,440 - 74,686,748 (-)NCBIGRCm37mm9NCBIm37
MGSCv361574,678,294 - 74,683,480 (-)NCBImm8
Celera1576,357,529 - 76,362,843 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1534.29NCBI
Cyp11b3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27106,808,559 - 106,814,048 (-)NCBI
Rnor_6.0 Ensembl7116,156,219 - 116,255,167 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,155,928 - 116,161,781 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07116,059,008 - 116,064,497 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,013,335 - 113,018,824 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17113,047,564 - 113,053,054 (-)NCBI
Celera7103,180,975 - 103,186,464 (-)NCBICelera
Cytogenetic Map7q34NCBI
CYP11B2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11336,866,476 - 36,880,625 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1336,823,864 - 36,833,784 (+)NCBI
ROS_Cfam_1.01337,342,302 - 37,352,691 (+)NCBI
UMICH_Zoey_3.11337,015,530 - 37,025,564 (+)NCBI
UNSW_CanFamBas_1.01337,134,290 - 37,144,097 (+)NCBI
UU_Cfam_GSD_1.01337,610,637 - 37,619,980 (+)NCBI
CYP11B2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.141,365,725 - 1,373,138 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC101700701
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,701,382 - 13,708,750 (+)NCBI

Position Markers
RH121974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,993,127 - 143,993,339UniSTSGRCh37
Build 368143,990,129 - 143,990,341RGDNCBI36
Celera8140,302,573 - 140,302,785RGD
Cytogenetic Map8q21-q22UniSTS
HuRef8139,245,396 - 139,245,608UniSTS
TNG Radiation Hybrid Map870927.0UniSTS
GDB:635986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,000,055 - 144,000,164UniSTSGRCh37
Build 368143,997,057 - 143,997,166RGDNCBI36
Celera8140,309,490 - 140,309,599RGD
Cytogenetic Map8q21-q22UniSTS
HuRef8139,252,311 - 139,252,421UniSTS
PMC60851P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,998,573 - 143,998,709UniSTSGRCh37
GRCh378143,960,546 - 143,960,682UniSTSGRCh37
Build 368143,957,548 - 143,957,684RGDNCBI36
Celera8140,270,175 - 140,270,311RGD
Celera8140,308,008 - 140,308,144UniSTS
Cytogenetic Map8q21-q22UniSTS
Cytogenetic Map8q21UniSTS
HuRef8139,250,829 - 139,250,965UniSTS
HuRef8139,212,815 - 139,212,951UniSTS
CYP11B1_2340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,992,787 - 143,993,473UniSTSGRCh37
GRCh378143,955,186 - 143,955,866UniSTSGRCh37
Build 368143,952,188 - 143,952,868RGDNCBI36
Celera8140,302,233 - 140,302,919UniSTS
Celera8140,264,815 - 140,265,495RGD
HuRef8139,245,056 - 139,245,742UniSTS
HuRef8139,207,455 - 139,208,135UniSTS
CYP11B2_1990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,991,834 - 143,992,539UniSTSGRCh37
Build 368143,988,836 - 143,989,541RGDNCBI36
Celera8140,301,280 - 140,301,985RGD
HuRef8139,244,103 - 139,244,808UniSTS
RH18106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,992,059 - 143,992,310UniSTSGRCh37
Build 368143,989,061 - 143,989,312RGDNCBI36
Celera8140,301,505 - 140,301,756RGD
Cytogenetic Map8q21-q22UniSTS
HuRef8139,244,328 - 139,244,579UniSTS
GeneMap99-GB4 RH Map8547.4UniSTS
RH79160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,992,098 - 143,992,274UniSTSGRCh37
Build 368143,989,100 - 143,989,276RGDNCBI36
Celera8140,301,544 - 140,301,720RGD
Cytogenetic Map8q21-q22UniSTS
HuRef8139,244,367 - 139,244,543UniSTS
GeneMap99-GB4 RH Map8561.19UniSTS
STS-M32879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,992,642 - 143,992,804UniSTSGRCh37
GRCh378143,955,041 - 143,955,203UniSTSGRCh37
Build 368143,952,043 - 143,952,205RGDNCBI36
Celera8140,302,088 - 140,302,250UniSTS
Celera8140,264,670 - 140,264,832RGD
Cytogenetic Map8q21-q22UniSTS
Cytogenetic Map8q21UniSTS
HuRef8139,207,310 - 139,207,472UniSTS
HuRef8139,244,911 - 139,245,073UniSTS
GeneMap99-GB4 RH Map8557.34UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:819
Count of miRNA genes:565
Interacting mature miRNAs:613
Transcripts:ENST00000323110
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High 17
Medium 2 232 2 1 1 1
Low 10 8 24 7 3 6 17 6 11 2 17 6 1 5 12
Below cutoff 752 754 464 174 440 122 1003 571 1168 53 667 427 52 315 664

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000323110   ⟹   ENSP00000325822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,910,559 - 142,917,843 (-)Ensembl
RefSeq Acc Id: NM_000498   ⟹   NP_000489
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,910,559 - 142,917,843 (-)NCBI
GRCh378143,991,975 - 143,999,259 (-)ENTREZGENE
Build 368143,988,977 - 143,996,261 (-)NCBI Archive
HuRef8139,244,244 - 139,251,515 (-)ENTREZGENE
CHM1_18144,032,236 - 144,039,525 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000489   ⟸   NM_000498
- Peptide Label: precursor
- UniProtKB: P19099 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000325822   ⟸   ENST00000323110

Promoters
RGD ID:7214319
Promoter ID:EPDNEW_H12906
Type:single initiation site
Name:CYP11B2_1
Description:cytochrome P450 family 11 subfamily B member 2
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
GRCh388142,917,852 - 142,917,912EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
CYP11B2, 5-BP DEL deletion Corticosterone 18-monooxygenase deficiency [RCV000018374] Chr8:8q21 pathogenic
NM_000498.3(CYP11B2):c.1382T>C (p.Leu461Pro) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000018375] Chr8:142912546 [GRCh38]
Chr8:143993962 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000018376]|Corticosterone methyl oxidase type II deficiency [RCV001271156]|not provided [RCV001059131] Chr8:142914741 [GRCh38]
Chr8:143996157 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) single nucleotide variant Corticosterone methyloxidase type 2 deficiency [RCV000018377]|not provided [RCV000808165] Chr8:142915087 [GRCh38]
Chr8:143996503 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
CYP11B2, 6-BP DUP, CODON 143 duplication Corticosterone 18-monooxygenase deficiency [RCV000018378] Chr8:8q21 pathogenic
NM_000498.3(CYP11B2):c.-344T= single nucleotide variant Aldosterone to renin ratio, increased [RCV000018379] Chr8:142918184 [GRCh38]
Chr8:143999600 [GRCh37]
Chr8:8q24.3
association
CYP11B2, IVS2 CONVERSION variation Aldosterone to renin ratio, increased [RCV000018380] Chr8:8q21 pathogenic
NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala) single nucleotide variant Corticosterone methyloxidase type 2 deficiency [RCV000018381] Chr8:142912000 [GRCh38]
Chr8:143993416 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.814C>T (p.Gln272Ter) single nucleotide variant Corticosterone methyloxidase type 2 deficiency [RCV000018382] Chr8:142914404 [GRCh38]
Chr8:143995820 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000272288]|Corticosterone methyloxidase type 2 deficiency [RCV000357616]|Hyperaldosteronism, familial, type I [RCV000321492]|not provided [RCV000949532] Chr8:142912850 [GRCh38]
Chr8:143994266 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.1350C>A (p.Cys450Ter) single nucleotide variant not provided [RCV000224086] Chr8:142912578 [GRCh38]
Chr8:143993994 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000376237]|Corticosterone methyloxidase type 2 deficiency [RCV000266543]|Hyperaldosteronism, familial, type I [RCV000323926]|not provided [RCV000927603] Chr8:142914351 [GRCh38]
Chr8:143995767 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000320888]|Corticosterone methyl oxidase type II deficiency [RCV001271162]|Corticosterone methyloxidase type 2 deficiency [RCV000377865]|Hyperaldosteronism, familial, type I [RCV000268061]|not provided [RCV000969225] Chr8:142917752 [GRCh38]
Chr8:143999168 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.844C>T (p.Arg282Cys) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000283934]|Corticosterone methyloxidase type 2 deficiency [RCV000384246]|Hyperaldosteronism, familial, type I [RCV000327248] Chr8:142914374 [GRCh38]
Chr8:143995790 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000498.3(CYP11B2):c.424T>C (p.Leu142=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000346107]|Corticosterone methyloxidase type 2 deficiency [RCV000284163]|Hyperaldosteronism, familial, type I [RCV000376315] Chr8:142915217 [GRCh38]
Chr8:143996633 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1006G>A (p.Val336Met) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000378861]|Corticosterone methyloxidase type 2 deficiency [RCV000339480]|Hyperaldosteronism, familial, type I [RCV000284201] Chr8:142913400 [GRCh38]
Chr8:143994816 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000498.3(CYP11B2):c.*81G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000393363]|Corticosterone methyloxidase type 2 deficiency [RCV000356040]|Hyperaldosteronism, familial, type I [RCV000301190] Chr8:142911899 [GRCh38]
Chr8:143993315 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.752A>G (p.Lys251Arg) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000394654]|Corticosterone methyloxidase type 2 deficiency [RCV000301527]|Hyperaldosteronism, familial, type I [RCV000353934] Chr8:142914752 [GRCh38]
Chr8:143996168 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000342621]|Corticosterone methyloxidase type 2 deficiency [RCV000372892]|Hyperaldosteronism, familial, type I [RCV000285419] Chr8:142915165 [GRCh38]
Chr8:143996581 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000396944]|Corticosterone methyloxidase type 2 deficiency [RCV000341935]|Hyperaldosteronism, familial, type I [RCV000302342]|not provided [RCV000947143] Chr8:142913326 [GRCh38]
Chr8:143994742 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000269208]|Corticosterone methyl oxidase type II deficiency [RCV001275480]|Corticosterone methyloxidase type 2 deficiency [RCV000366140]|Hyperaldosteronism, familial, type I [RCV000307908]|not specified [RCV000609130] Chr8:142915123 [GRCh38]
Chr8:143996539 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.*566C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000285898]|Corticosterone methyloxidase type 2 deficiency [RCV000334889]|Hyperaldosteronism, familial, type I [RCV000380143] Chr8:142911414 [GRCh38]
Chr8:143992830 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000306484]|Corticosterone methyloxidase type 2 deficiency [RCV000271874]|Hyperaldosteronism, familial, type I [RCV000366392] Chr8:142913367 [GRCh38]
Chr8:143994783 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000287551]|Corticosterone methyloxidase type 2 deficiency [RCV000405585]|Hyperaldosteronism, familial, type I [RCV000351587]|not provided [RCV000891433] Chr8:142914376 [GRCh38]
Chr8:143995792 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000288509]|Corticosterone methyl oxidase type II deficiency [RCV001271150]|Corticosterone methyloxidase type 2 deficiency [RCV000327328]|Hyperaldosteronism, familial, type I [RCV000382899]|not provided [RCV000949533] Chr8:142912863 [GRCh38]
Chr8:143994279 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000336090]|Corticosterone methyloxidase type 2 deficiency [RCV000305780]|Hyperaldosteronism, familial, type I [RCV000396937]|not provided [RCV000882731] Chr8:142913308 [GRCh38]
Chr8:143994724 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.*532G>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000346205]|Corticosterone methyloxidase type 2 deficiency [RCV000306434]|Hyperaldosteronism, familial, type I [RCV000394920] Chr8:142911448 [GRCh38]
Chr8:143992864 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.395+10G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000402832]|Corticosterone methyloxidase type 2 deficiency [RCV000344858]|Hyperaldosteronism, familial, type I [RCV000306272]|not provided [RCV000979338] Chr8:142917049 [GRCh38]
Chr8:143998465 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.*744G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000357554]|Corticosterone methyloxidase type 2 deficiency [RCV000302709]|Hyperaldosteronism, familial, type I [RCV000272062] Chr8:142911236 [GRCh38]
Chr8:143992652 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.640C>G (p.His214Asp) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000365143]|Corticosterone methyloxidase type 2 deficiency [RCV000322116]|Hyperaldosteronism, familial, type I [RCV000273132]|not provided [RCV000892319] Chr8:142914864 [GRCh38]
Chr8:143996280 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.*239T>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000289248]|Corticosterone methyloxidase type 2 deficiency [RCV000344283]|Hyperaldosteronism, familial, type I [RCV000384561] Chr8:142911741 [GRCh38]
Chr8:143993157 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.504C>T (p.Phe168=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000370864]|Corticosterone methyl oxidase type II deficiency [RCV001271160]|Corticosterone methyloxidase type 2 deficiency [RCV000273968]|Hyperaldosteronism, familial, type I [RCV000331401]|not specified [RCV000615092] Chr8:142915137 [GRCh38]
Chr8:143996553 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000345229]|Corticosterone methyloxidase type 2 deficiency [RCV000406067]|Hyperaldosteronism, familial, type I [RCV000309020] Chr8:142913447 [GRCh38]
Chr8:143994863 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.*735G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000332815]|Corticosterone methyloxidase type 2 deficiency [RCV000387341]|Hyperaldosteronism, familial, type I [RCV000274392] Chr8:142911245 [GRCh38]
Chr8:143992661 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.*537C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000340828]|Corticosterone methyloxidase type 2 deficiency [RCV000394905]|Hyperaldosteronism, familial, type I [RCV000291822] Chr8:142911443 [GRCh38]
Chr8:143992859 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.529C>T (p.Leu177=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000357855]|Corticosterone methyloxidase type 2 deficiency [RCV000395989]|Hyperaldosteronism, familial, type I [RCV000309100] Chr8:142915112 [GRCh38]
Chr8:143996528 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.*1246_*1248del deletion Corticosterone 18-monooxygenase deficiency [RCV000355582]|Corticosterone methyloxidase type 2 deficiency [RCV000259490]|Hyperaldosteronism, familial, type I [RCV000298335] Chr8:142910732..142910734 [GRCh38]
Chr8:143992148..143992150 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.*299G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000354495]|Corticosterone methyloxidase type 2 deficiency [RCV000324310]|Hyperaldosteronism, familial, type I [RCV000259713] Chr8:142911681 [GRCh38]
Chr8:143993097 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.891G>A (p.Ala297=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000275205]|Corticosterone methyloxidase type 2 deficiency [RCV000357155]|Hyperaldosteronism, familial, type I [RCV000311623] Chr8:142914327 [GRCh38]
Chr8:143995743 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000357492]|Corticosterone methyloxidase type 2 deficiency [RCV000275370]|Hyperaldosteronism, familial, type I [RCV000300100] Chr8:142917198 [GRCh38]
Chr8:143998614 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1021C>T (p.Arg341Cys) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000330960]|Corticosterone methyloxidase type 2 deficiency [RCV000370449]|Hyperaldosteronism, familial, type I [RCV000275819] Chr8:142913385 [GRCh38]
Chr8:143994801 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000379456]|Corticosterone methyloxidase type 2 deficiency [RCV000317922]|Hyperaldosteronism, familial, type I [RCV000260232]|not provided [RCV000899782] Chr8:142917730 [GRCh38]
Chr8:143999146 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.800-14T>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000350320]|Corticosterone methyloxidase type 2 deficiency [RCV000394655]|Hyperaldosteronism, familial, type I [RCV000293062] Chr8:142914432 [GRCh38]
Chr8:143995848 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*504C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000400981]|Corticosterone methyloxidase type 2 deficiency [RCV000312174]|Hyperaldosteronism, familial, type I [RCV000370370] Chr8:142911476 [GRCh38]
Chr8:143992892 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.595+14G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000336638]|Corticosterone methyloxidase type 2 deficiency [RCV000404022]|Hyperaldosteronism, familial, type I [RCV000278118] Chr8:142915032 [GRCh38]
Chr8:143996448 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.1016T>A (p.Ile339Asn) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000278472]|Corticosterone methyloxidase type 2 deficiency [RCV000342872]|Hyperaldosteronism, familial, type I [RCV000372642]|not provided [RCV000892873] Chr8:142913390 [GRCh38]
Chr8:143994806 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000388744]|Corticosterone methyl oxidase type II deficiency [RCV001271152]|Corticosterone methyloxidase type 2 deficiency [RCV000334245]|Hyperaldosteronism, familial, type I [RCV000294441]|not specified [RCV000614059] Chr8:142913286 [GRCh38]
Chr8:143994702 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000294724]|Corticosterone methyl oxidase type II deficiency [RCV001271157]|Corticosterone methyloxidase type 2 deficiency [RCV000325823]|Hyperaldosteronism, familial, type I [RCV000382714]|not provided [RCV000963652] Chr8:142914898 [GRCh38]
Chr8:143996314 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.873G>A (p.Ala291=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000315890]|Corticosterone methyl oxidase type II deficiency [RCV001271153]|Corticosterone methyloxidase type 2 deficiency [RCV000354330]|Hyperaldosteronism, familial, type I [RCV000263084]|not specified [RCV000613874] Chr8:142914345 [GRCh38]
Chr8:143995761 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.1016T>C (p.Ile339Thr) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000385370]|Corticosterone methyloxidase type 2 deficiency [RCV000318058]|Hyperaldosteronism, familial, type I [RCV000262745] Chr8:142913390 [GRCh38]
Chr8:143994806 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.*204C>G single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000403348]|Corticosterone methyloxidase type 2 deficiency [RCV000350208]|Hyperaldosteronism, familial, type I [RCV000295178] Chr8:142911776 [GRCh38]
Chr8:143993192 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000369828]|Corticosterone methyloxidase type 2 deficiency [RCV000315028]|Hyperaldosteronism, familial, type I [RCV000395007]|not provided [RCV000965712] Chr8:142914273 [GRCh38]
Chr8:143995689 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000263147]|Corticosterone methyloxidase type 2 deficiency [RCV000374419]|Hyperaldosteronism, familial, type I [RCV000315985]|not provided [RCV000897922] Chr8:142915164 [GRCh38]
Chr8:143996580 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.*1178T>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000330291]|Corticosterone methyloxidase type 2 deficiency [RCV000387104]|Hyperaldosteronism, familial, type I [RCV000263179] Chr8:142910802 [GRCh38]
Chr8:143992218 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.*579T>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000320075]|Corticosterone methyloxidase type 2 deficiency [RCV000279909]|Hyperaldosteronism, familial, type I [RCV000374420] Chr8:142911401 [GRCh38]
Chr8:143992817 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.*746G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000342527]|Corticosterone methyloxidase type 2 deficiency [RCV000297006]|Hyperaldosteronism, familial, type I [RCV000396774] Chr8:142911234 [GRCh38]
Chr8:143992650 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000367726]|Corticosterone methyloxidase type 2 deficiency [RCV000315409]|Hyperaldosteronism, familial, type I [RCV000396255] Chr8:142917102 [GRCh38]
Chr8:143998518 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.674A>G (p.His225Arg) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000304516]|Corticosterone methyloxidase type 2 deficiency [RCV000264588]|Hyperaldosteronism, familial, type I [RCV000361561] Chr8:142914830 [GRCh38]
Chr8:143996246 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000349324]|Corticosterone methyloxidase type 2 deficiency [RCV000281440]|Hyperaldosteronism, familial, type I [RCV000375942]|not provided [RCV000884546] Chr8:142913305 [GRCh38]
Chr8:143994721 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000361114]|Corticosterone methyloxidase type 2 deficiency [RCV000297061]|Hyperaldosteronism, familial, type I [RCV000266476] Chr8:142912837 [GRCh38]
Chr8:143994253 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.*789G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000283610]|Corticosterone methyloxidase type 2 deficiency [RCV000396782]|Hyperaldosteronism, familial, type I [RCV000340999] Chr8:142911191 [GRCh38]
Chr8:143992607 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1303G>A (p.Gly435Ser) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162097]|Corticosterone methyl oxidase type II deficiency [RCV001271149]|Corticosterone methyloxidase type 2 deficiency [RCV000393406]|Hyperaldosteronism, familial, type I [RCV001162098]|not specified [RCV000455482] Chr8:142912625 [GRCh38]
Chr8:143994041 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.*292_*294dup duplication Corticosterone 18-monooxygenase deficiency [RCV000378643]|Corticosterone methyloxidase type 2 deficiency [RCV000320734]|Hyperaldosteronism, familial, type I [RCV000284409] Chr8:142911685..142911686 [GRCh38]
Chr8:143993101..143993102 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.*431A>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000318389]|Corticosterone methyloxidase type 2 deficiency [RCV000366730]|Hyperaldosteronism, familial, type I [RCV000262816] Chr8:142911549 [GRCh38]
Chr8:143992965 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*1047C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000381469]|Corticosterone methyloxidase type 2 deficiency [RCV000276270]|Hyperaldosteronism, familial, type I [RCV000333731] Chr8:142910933 [GRCh38]
Chr8:143992349 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*743C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000308428]|Corticosterone methyloxidase type 2 deficiency [RCV000363222]|Hyperaldosteronism, familial, type I [RCV000277997] Chr8:142911237 [GRCh38]
Chr8:143992653 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.635T>C (p.Val212Ala) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278641] Chr8:142914869 [GRCh38]
Chr8:143996285 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.101C>T (p.Thr34Met) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278650] Chr8:142917740 [GRCh38]
Chr8:143999156 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278112] Chr8:142913371 [GRCh38]
Chr8:143994787 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.595+15G>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000293540]|Corticosterone methyloxidase type 2 deficiency [RCV000385430]|Hyperaldosteronism, familial, type I [RCV000333354] Chr8:142915031 [GRCh38]
Chr8:143996447 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000335545]|Corticosterone methyloxidase type 2 deficiency [RCV000305481]|Hyperaldosteronism, familial, type I [RCV000395978] Chr8:142915050 [GRCh38]
Chr8:143996466 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*972C>G single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000384911]|Corticosterone methyloxidase type 2 deficiency [RCV000346730]|Hyperaldosteronism, familial, type I [RCV000289331] Chr8:142911008 [GRCh38]
Chr8:143992424 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.-14G>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000381522]|Corticosterone methyloxidase type 2 deficiency [RCV000291813]|Hyperaldosteronism, familial, type I [RCV000345330] Chr8:142917854 [GRCh38]
Chr8:143999270 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000498.3(CYP11B2):c.798C>T (p.Tyr266=) single nucleotide variant not provided [RCV000911079]|not specified [RCV000434753] Chr8:142914706 [GRCh38]
Chr8:143996122 [GRCh37]
Chr8:8q24.3
benign|likely benign
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143958399-143994806)x1 copy number loss not provided [RCV000747917] Chr8:143958399..143994806 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.39G>A (p.Ala13=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001275487]|not provided [RCV000977629] Chr8:142917802 [GRCh38]
Chr8:143999218 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1201-9C>T single nucleotide variant not provided [RCV000982661] Chr8:142912736 [GRCh38]
Chr8:143994152 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.342G>A (p.Glu114=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001159609]|Corticosterone methyloxidase type 2 deficiency [RCV001159607]|Hyperaldosteronism, familial, type I [RCV001159608]|not provided [RCV000944990] Chr8:142917112 [GRCh38]
Chr8:143998528 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.679C>T (p.Leu227=) single nucleotide variant not provided [RCV000970191] Chr8:142914825 [GRCh38]
Chr8:143996241 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.225G>A (p.Leu75=) single nucleotide variant not provided [RCV000975247] Chr8:142917616 [GRCh38]
Chr8:143999032 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.325T>C (p.Cys109Arg) single nucleotide variant not provided [RCV000892102] Chr8:142917129 [GRCh38]
Chr8:143998545 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1266G>C (p.Arg422=) single nucleotide variant not provided [RCV000969550] Chr8:142912662 [GRCh38]
Chr8:143994078 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.843C>T (p.Asn281=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001273474]|not provided [RCV000975944] Chr8:142914375 [GRCh38]
Chr8:143995791 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.-344T>C single nucleotide variant not provided [RCV000937219] Chr8:142918184 [GRCh38]
Chr8:143999600 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.414C>T (p.Arg138=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001275481]|not provided [RCV000901634] Chr8:142915227 [GRCh38]
Chr8:143996643 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.459C>T (p.Ala153=) single nucleotide variant not provided [RCV000901176] Chr8:142915182 [GRCh38]
Chr8:143996598 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.282G>A (p.Pro94=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001275483]|not provided [RCV000893213] Chr8:142917172 [GRCh38]
Chr8:143998588 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000498.3(CYP11B2):c.786C>T (p.Cys262=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001275478]|not provided [RCV000928334] Chr8:142914718 [GRCh38]
Chr8:143996134 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.102G>A (p.Thr34=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001275486]|not provided [RCV000968940] Chr8:142917739 [GRCh38]
Chr8:143999155 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1150C>T (p.Arg384Ter) single nucleotide variant not provided [RCV001050464] Chr8:142912857 [GRCh38]
Chr8:143994273 [GRCh37]
Chr8:8q24.3
pathogenic
NC_000008.11:g.(?_142874363)_(142918184_?)del deletion not provided [RCV001031449] Chr8:143955779..143999600 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer) deletion Corticosterone 18-monooxygenase deficiency [RCV001195423]|not provided [RCV001051643] Chr8:142917693..142917702 [GRCh38]
Chr8:143999109..143999118 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NC_000008.11:g.(?_142911970)_(142914428_?)del deletion not provided [RCV001031646] Chr8:143993386..143995844 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000498.3(CYP11B2):c.251dup (p.Gly85fs) duplication not provided [RCV001048165] Chr8:142917202..142917203 [GRCh38]
Chr8:143998618..143998619 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.1398+1G>A single nucleotide variant not provided [RCV001035065] Chr8:142912529 [GRCh38]
Chr8:143993945 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.1200+1G>A single nucleotide variant not provided [RCV000811326] Chr8:142912806 [GRCh38]
Chr8:143994222 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000498.3(CYP11B2):c.1002C>T (p.Pro334=) single nucleotide variant not provided [RCV000941381] Chr8:142913404 [GRCh38]
Chr8:143994820 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.240-9del deletion Corticosterone 18-monooxygenase deficiency [RCV001275484]|not provided [RCV000879605] Chr8:142917223 [GRCh38]
Chr8:143998639 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000498.3(CYP11B2):c.596-4G>A single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278642]|not provided [RCV000983626] Chr8:142914912 [GRCh38]
Chr8:143996328 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1015A>G (p.Ile339Val) single nucleotide variant not provided [RCV000892466] Chr8:142913391 [GRCh38]
Chr8:143994807 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.596-5C>T single nucleotide variant not provided [RCV000982277] Chr8:142914913 [GRCh38]
Chr8:143996329 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.369T>A (p.Arg123=) single nucleotide variant not provided [RCV000938368] Chr8:142917085 [GRCh38]
Chr8:143998501 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.768C>T (p.His256=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001271155]|not provided [RCV000976227] Chr8:142914736 [GRCh38]
Chr8:143996152 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.142A>C (p.Arg48=) single nucleotide variant not provided [RCV000981043] Chr8:142917699 [GRCh38]
Chr8:143999115 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162390]|Corticosterone methyl oxidase type II deficiency [RCV001275479]|Corticosterone methyloxidase type 2 deficiency [RCV001162389]|Hyperaldosteronism, familial, type I [RCV001160767]|not provided [RCV000964503] Chr8:142914761 [GRCh38]
Chr8:143996177 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1209A>G (p.Val403=) single nucleotide variant not provided [RCV000917844] Chr8:142912719 [GRCh38]
Chr8:143994135 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160463]|Corticosterone methyloxidase type 2 deficiency [RCV001160464]|Hyperaldosteronism, familial, type I [RCV001160465]|not provided [RCV000917179] Chr8:142912575 [GRCh38]
Chr8:143993991 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.435C>T (p.Asn145=) single nucleotide variant not provided [RCV000883273] Chr8:142915206 [GRCh38]
Chr8:143996622 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.954G>A (p.Thr318=) single nucleotide variant not provided [RCV000815493] Chr8:142914264 [GRCh38]
Chr8:143995680 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.545_546dup (p.Ser183fs) duplication not provided [RCV000819581] Chr8:142915094..142915095 [GRCh38]
Chr8:143996510..143996511 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.27G>A (p.Val9=) single nucleotide variant not provided [RCV000976417] Chr8:142917814 [GRCh38]
Chr8:143999230 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.412C>T (p.Arg138Cys) single nucleotide variant not provided [RCV000976544] Chr8:142915229 [GRCh38]
Chr8:143996645 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3 copy number gain not provided [RCV000846118] Chr8:142988974..144218537 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.845G>A (p.Arg282His) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001164319]|Corticosterone methyloxidase type 2 deficiency [RCV001164318]|Hyperaldosteronism, familial, type I [RCV001164317] Chr8:142914373 [GRCh38]
Chr8:143995789 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met) single nucleotide variant not provided [RCV001058716] Chr8:142914265 [GRCh38]
Chr8:143995681 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.1009C>T (p.Gln337Ter) single nucleotide variant not provided [RCV000804171] Chr8:142913397 [GRCh38]
Chr8:143994813 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.182A>T (p.Tyr61Phe) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001275485]|not provided [RCV000916860] Chr8:142917659 [GRCh38]
Chr8:143999075 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1041C>T (p.Ala347=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001273473]|not provided [RCV000941027] Chr8:142913365 [GRCh38]
Chr8:143994781 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001271158]|not provided [RCV000793582] Chr8:142915047 [GRCh38]
Chr8:143996463 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NC_000008.11:g.(?_142875702)_(142912895_?)del deletion not provided [RCV000802588] Chr8:142875702..142912895 [GRCh38]
Chr8:143957118..143994311 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_000498.3(CYP11B2):c.1227G>T (p.Ser409=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001273470]|not provided [RCV000936628] Chr8:142912701 [GRCh38]
Chr8:143994117 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:143956846-143994131)x1 copy number loss not provided [RCV000846740] Chr8:143956846..143994131 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143728492-144093928)x3 copy number gain not provided [RCV001006153] Chr8:143728492..144093928 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*993A>G single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001163539]|Corticosterone methyloxidase type 2 deficiency [RCV001163538]|Hyperaldosteronism, familial, type I [RCV001163537] Chr8:142910987 [GRCh38]
Chr8:143992403 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*591T>G single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001163627]|Corticosterone methyloxidase type 2 deficiency [RCV001163626]|Hyperaldosteronism, familial, type I [RCV001163628] Chr8:142911389 [GRCh38]
Chr8:143992805 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_000498.3(CYP11B2):c.1441A>T (p.Ile481Leu) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001159113]|Corticosterone methyloxidase type 2 deficiency [RCV001159112]|Hyperaldosteronism, familial, type I [RCV001159111] Chr8:142912051 [GRCh38]
Chr8:143993467 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1398+10C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160462]|Corticosterone methyloxidase type 2 deficiency [RCV001159115]|Hyperaldosteronism, familial, type I [RCV001159114] Chr8:142912520 [GRCh38]
Chr8:143993936 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160467]|Corticosterone methyloxidase type 2 deficiency [RCV001160466]|Hyperaldosteronism, familial, type I [RCV001160468] Chr8:142912585 [GRCh38]
Chr8:143994001 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.796T>G (p.Tyr266Asp) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160766]|Corticosterone methyloxidase type 2 deficiency [RCV001160764]|Hyperaldosteronism, familial, type I [RCV001160765] Chr8:142914708 [GRCh38]
Chr8:143996124 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.157C>T (p.Leu53=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160998]|Corticosterone methyloxidase type 2 deficiency [RCV001160996]|Hyperaldosteronism, familial, type I [RCV001160997] Chr8:142917684 [GRCh38]
Chr8:143999100 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*879G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001163835]|Corticosterone methyloxidase type 2 deficiency [RCV001163837]|Hyperaldosteronism, familial, type I [RCV001163836] Chr8:142911101 [GRCh38]
Chr8:143992517 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.395+1G>A single nucleotide variant not provided [RCV001247095] Chr8:142917058 [GRCh38]
Chr8:143998474 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000498.3(CYP11B2):c.1272T>C (p.Asn424=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001273469]|not provided [RCV000969549] Chr8:142912656 [GRCh38]
Chr8:143994072 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.326G>A (p.Cys109Tyr) single nucleotide variant not provided [RCV000892101] Chr8:142917128 [GRCh38]
Chr8:143998544 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.85G>A (p.Ala29Thr) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162582]|Corticosterone methyl oxidase type II deficiency [RCV001271163]|Corticosterone methyloxidase type 2 deficiency [RCV001162583]|Hyperaldosteronism, familial, type I [RCV001162584]|not provided [RCV000888737] Chr8:142917756 [GRCh38]
Chr8:143999172 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.9C>A (p.Leu3=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162585]|Corticosterone methyl oxidase type II deficiency [RCV001275488]|Corticosterone methyloxidase type 2 deficiency [RCV001164639]|Hyperaldosteronism, familial, type I [RCV001164638]|not provided [RCV000916467] Chr8:142917832 [GRCh38]
Chr8:143999248 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1086G>C (p.Leu362=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162182]|Corticosterone methyloxidase type 2 deficiency [RCV001162180]|Hyperaldosteronism, familial, type I [RCV001162181]|not provided [RCV000978657] Chr8:142913320 [GRCh38]
Chr8:143994736 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.78T>G (p.Thr26=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001271164]|not provided [RCV000886832] Chr8:142917763 [GRCh38]
Chr8:143999179 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1240G>C (p.Ala414Pro) single nucleotide variant not provided [RCV000954692] Chr8:142912688 [GRCh38]
Chr8:143994104 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.1239T>C (p.Asn413=) single nucleotide variant not provided [RCV000954693] Chr8:142912689 [GRCh38]
Chr8:143994105 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1215T>G (p.Val405=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278109]|not provided [RCV000917843] Chr8:142912713 [GRCh38]
Chr8:143994129 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.954+9A>G single nucleotide variant not provided [RCV000909376] Chr8:142914255 [GRCh38]
Chr8:143995671 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.70C>T (p.Leu24=) single nucleotide variant not provided [RCV000919595] Chr8:142917771 [GRCh38]
Chr8:143999187 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1398+7A>C single nucleotide variant not provided [RCV000915441] Chr8:142912523 [GRCh38]
Chr8:143993939 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.702C>T (p.Thr234=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278120]|not provided [RCV000977614] Chr8:142914802 [GRCh38]
Chr8:143996218 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.595+9C>T single nucleotide variant not provided [RCV000930075] Chr8:142915037 [GRCh38]
Chr8:143996453 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.624G>T (p.Arg208=) single nucleotide variant not provided [RCV000978810] Chr8:142914880 [GRCh38]
Chr8:143996296 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.*1340T>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001158811]|Corticosterone methyloxidase type 2 deficiency [RCV001158812]|Hyperaldosteronism, familial, type I [RCV001158810] Chr8:142910640 [GRCh38]
Chr8:143992056 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*1277G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001158813]|Corticosterone methyloxidase type 2 deficiency [RCV001160155]|Hyperaldosteronism, familial, type I [RCV001158814] Chr8:142910703 [GRCh38]
Chr8:143992119 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*759A>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001158919]|Corticosterone methyloxidase type 2 deficiency [RCV001158917]|Hyperaldosteronism, familial, type I [RCV001158918] Chr8:142911221 [GRCh38]
Chr8:143992637 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.30C>A (p.Cys10Ter) single nucleotide variant not provided [RCV001207883] Chr8:142917811 [GRCh38]
Chr8:143999227 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.1201-9C>G single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162103]|Corticosterone methyloxidase type 2 deficiency [RCV001162104]|Hyperaldosteronism, familial, type I [RCV001162102] Chr8:142912736 [GRCh38]
Chr8:143994152 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*876C>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001163839]|Corticosterone methyloxidase type 2 deficiency [RCV001163840]|Hyperaldosteronism, familial, type I [RCV001163838] Chr8:142911104 [GRCh38]
Chr8:143992520 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.799+2T>C single nucleotide variant not provided [RCV001239585] Chr8:142914703 [GRCh38]
Chr8:143996119 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000498.3(CYP11B2):c.1116_1117del (p.Leu373fs) deletion not provided [RCV001062790] Chr8:142913289..142913290 [GRCh38]
Chr8:143994705..143994706 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.1122-10C>T single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001271151]|not provided [RCV000891432] Chr8:142912895 [GRCh38]
Chr8:143994311 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001271154]|not provided [RCV000891434] Chr8:142914393 [GRCh38]
Chr8:143995809 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.801T>C (p.Gly267=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001275476]|not provided [RCV000891435] Chr8:142914417 [GRCh38]
Chr8:143995833 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.800-7T>C single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001275477]|not provided [RCV000891436] Chr8:142914425 [GRCh38]
Chr8:143995841 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*298C>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160351]|Corticosterone methyloxidase type 2 deficiency [RCV001160350]|Hyperaldosteronism, familial, type I [RCV001162010] Chr8:142911682 [GRCh38]
Chr8:143993098 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*205G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162011]|Corticosterone methyloxidase type 2 deficiency [RCV001162013]|Hyperaldosteronism, familial, type I [RCV001162012] Chr8:142911775 [GRCh38]
Chr8:143993191 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*613C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001163625]|Corticosterone methyloxidase type 2 deficiency [RCV001163623]|Hyperaldosteronism, familial, type I [RCV001163624] Chr8:142911367 [GRCh38]
Chr8:143992783 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1454A>G (p.Tyr485Cys) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001159109]|Corticosterone methyloxidase type 2 deficiency [RCV001159110]|Hyperaldosteronism, familial, type I [RCV001159108] Chr8:142912038 [GRCh38]
Chr8:143993454 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1136G>T (p.Gly379Val) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001159212]|Corticosterone methyloxidase type 2 deficiency [RCV001159211]|Hyperaldosteronism, familial, type I [RCV001159213] Chr8:142912871 [GRCh38]
Chr8:143994287 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.280C>T (p.Pro94Ser) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001159612]|Corticosterone methyloxidase type 2 deficiency [RCV001159611]|Hyperaldosteronism, familial, type I [RCV001159610] Chr8:142917174 [GRCh38]
Chr8:143998590 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.979C>T (p.Leu327Phe) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001159306]|Corticosterone methyloxidase type 2 deficiency [RCV001159308]|Hyperaldosteronism, familial, type I [RCV001159307] Chr8:142913427 [GRCh38]
Chr8:143994843 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001271159]|not provided [RCV001043588] Chr8:142915100 [GRCh38]
Chr8:143996516 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.924T>C (p.Ser308=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160671]|Corticosterone methyloxidase type 2 deficiency [RCV001160672]|Hyperaldosteronism, familial, type I [RCV001162286] Chr8:142914294 [GRCh38]
Chr8:143995710 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1398+2T>G single nucleotide variant not provided [RCV001049059] Chr8:142912528 [GRCh38]
Chr8:143993944 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162489]|Corticosterone methyloxidase type 2 deficiency [RCV001162491]|Hyperaldosteronism, familial, type I [RCV001162490] Chr8:142915192 [GRCh38]
Chr8:143996608 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.427C>T (p.Arg143Trp) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162493]|Corticosterone methyloxidase type 2 deficiency [RCV001162492]|Hyperaldosteronism, familial, type I [RCV001164534] Chr8:142915214 [GRCh38]
Chr8:143996630 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1014_1015insTA (p.Ile339Ter) insertion not provided [RCV001070730] Chr8:142913391..142913392 [GRCh38]
Chr8:143994807..143994808 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.449C>A (p.Ser150Ter) single nucleotide variant not provided [RCV001066442] Chr8:142915192 [GRCh38]
Chr8:143996608 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.240-1G>A single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001271161]|not provided [RCV001035921] Chr8:142917215 [GRCh38]
Chr8:143998631 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.*25A>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001164021]|Corticosterone methyloxidase type 2 deficiency [RCV001164020]|Hyperaldosteronism, familial, type I [RCV001164019] Chr8:142911955 [GRCh38]
Chr8:143993371 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162100]|Corticosterone methyloxidase type 2 deficiency [RCV001162099]|Hyperaldosteronism, familial, type I [RCV001162101] Chr8:142912712 [GRCh38]
Chr8:143994128 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_000498.3(CYP11B2):c.961T>A (p.Phe321Ile) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278115] Chr8:142913445 [GRCh38]
Chr8:143994861 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.954+7C>T single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278117] Chr8:142914257 [GRCh38]
Chr8:143995673 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.800-3C>T single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278118] Chr8:142914421 [GRCh38]
Chr8:143995837 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.590T>C (p.Ile197Thr) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278643] Chr8:142915051 [GRCh38]
Chr8:143996467 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.493G>T (p.Ala165Ser) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278645] Chr8:142915148 [GRCh38]
Chr8:143996564 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1265G>A (p.Arg422Gln) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278106] Chr8:142912663 [GRCh38]
Chr8:143994079 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1096C>T (p.Arg366Trp) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278111] Chr8:142913310 [GRCh38]
Chr8:143994726 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1022G>A (p.Arg341His) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278114] Chr8:142913384 [GRCh38]
Chr8:143994800 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.537C>T (p.Asn179=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278644] Chr8:142915104 [GRCh38]
Chr8:143996520 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.84C>T (p.Ala28=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278651] Chr8:142917757 [GRCh38]
Chr8:143999173 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.955-10G>T single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278116] Chr8:142913461 [GRCh38]
Chr8:143994877 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.677C>T (p.Ala226Val) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278121] Chr8:142914827 [GRCh38]
Chr8:143996243 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.384C>T (p.Gly128=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278647] Chr8:142917070 [GRCh38]
Chr8:143998486 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.260G>A (p.Arg87His) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278648] Chr8:142917194 [GRCh38]
Chr8:143998610 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.59G>A (p.Arg20Lys) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278652] Chr8:142917782 [GRCh38]
Chr8:143999198 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1253C>T (p.Pro418Leu) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278107] Chr8:142912675 [GRCh38]
Chr8:143994091 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1030A>G (p.Ser344Gly) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278113] Chr8:142913376 [GRCh38]
Chr8:143994792 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.737G>A (p.Arg246His) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278119] Chr8:142914767 [GRCh38]
Chr8:143996183 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.395+6C>T single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278646] Chr8:142917053 [GRCh38]
Chr8:143998469 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.38C>T (p.Ala13Val) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278653] Chr8:142917803 [GRCh38]
Chr8:143999219 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278105] Chr8:142912587 [GRCh38]
Chr8:143994003 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1122-4C>T single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278110] Chr8:142912889 [GRCh38]
Chr8:143994305 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.159G>A (p.Leu53=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278649] Chr8:142917682 [GRCh38]
Chr8:143999098 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1227G>A (p.Ser409=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278108] Chr8:142912701 [GRCh38]
Chr8:143994117 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.30C>T (p.Cys10=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278654] Chr8:142917811 [GRCh38]
Chr8:143999227 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2592 AgrOrtholog
COSMIC CYP11B2 COSMIC
Ensembl Genes ENSG00000179142 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000325822 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000323110 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.630.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179142 GTEx
HGNC ID HGNC:2592 ENTREZGENE
Human Proteome Map CYP11B2 Human Proteome Map
InterPro Cyt_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_CS UniProtKB/Swiss-Prot
  Cyt_P450_mitochondrial UniProtKB/Swiss-Prot
  Cyt_P450_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1585 UniProtKB/Swiss-Prot
NCBI Gene 1585 ENTREZGENE
OMIM 124080 OMIM
  203400 OMIM
  610600 OMIM
Pfam p450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CYP11B2 RGD, PharmGKB
PRINTS MITP450 UniProtKB/Swiss-Prot
  P450 UniProtKB/Swiss-Prot
PROSITE CYTOCHROME_P450 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C11B2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16315_HUMAN UniProtKB/TrEMBL
  Q16316_HUMAN UniProtKB/TrEMBL
UniProt Secondary B0ZBE4 UniProtKB/Swiss-Prot
  Q16726 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 CYP11B2  cytochrome P450 family 11 subfamily B member 2    cytochrome P450, family 11, subfamily B, polypeptide 2  Symbol and/or name change 5135510 APPROVED
2011-08-16 CYP11B2  cytochrome P450, family 11, subfamily B, polypeptide 2  CYP11B2  cytochrome P450, family 11, subfamily B, polypeptide 2  Symbol and/or name change 5135510 APPROVED