CYBA (cytochrome b-245 alpha chain) - Rat Genome Database

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Gene: CYBA (cytochrome b-245 alpha chain) Homo sapiens
Analyze
Symbol: CYBA
Name: cytochrome b-245 alpha chain
RGD ID: 734174
HGNC Page HGNC:2577
Description: Enables SH3 domain binding activity; electron transfer activity; and protein heterodimerization activity. Contributes to superoxide-generating NAD(P)H oxidase activity. Involved in several processes, including positive regulation of biosynthetic process; positive regulation of defense response; and superoxide anion generation. Located in NADPH oxidase complex. Implicated in artery disease (multiple); asthma; chronic obstructive pulmonary disease; and phagocyte bactericidal dysfunction (multiple). Biomarker of acute lymphoblastic leukemia and obstructive sleep apnea.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CGD4; cytochrome b light chain; cytochrome b(558) alpha chain; cytochrome b(558) alpha-subunit; cytochrome b, alpha polypeptide; cytochrome b-245 light chain; cytochrome b-245, alpha polypeptide; cytochrome b558 alpha-subunit; cytochrome b558 subunit alpha; flavocytochrome b-558 alpha polypeptide; FLJ43590; FLJ99071; neutrophil cytochrome b 22 kDa polypeptide; p22 phagocyte B-cytochrome; p22-PHOX; p22phox; superoxide-generating NADPH oxidase light chain subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381688,643,289 - 88,651,053 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1688,643,275 - 88,651,083 (-)EnsemblGRCh38hg38GRCh38
GRCh371688,709,697 - 88,717,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361687,237,198 - 87,244,958 (-)NCBINCBI36Build 36hg18NCBI36
Build 341687,237,198 - 87,244,950NCBI
Celera1673,779,369 - 73,787,129 (-)NCBICelera
Cytogenetic Map16q24.2NCBI
HuRef1674,403,728 - 74,411,523 (-)NCBIHuRef
CHM1_11690,120,999 - 90,128,842 (-)NCBICHM1_1
T2T-CHM13v2.01694,711,169 - 94,718,983 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(R)-lipoic acid  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP,ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
11-deoxycorticosterone  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-aminobiphenyl  (EXP)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxy-TEMPO  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
AICA ribonucleotide  (ISO)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
aminoguanidine  (ISO)
amlodipine  (ISO)
ammonium chloride  (ISO)
anagliptin  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antirheumatic drug  (EXP)
apocynin  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atorvastatin calcium  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (EXP)
bezafibrate  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
bortezomib  (EXP)
butan-1-ol  (EXP)
Butylbenzyl phthalate  (ISO)
Butylparaben  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcitriol  (ISO)
candesartan  (EXP,ISO)
canrenoic acid  (ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
chloropicrin  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clothianidin  (EXP)
cobalt dichloride  (ISO)
cocaine  (ISO)
colistin  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
D-glucose  (EXP,ISO)
daunorubicin  (ISO)
DDE  (EXP)
decabromodiphenyl ether  (ISO)
dehydroepiandrosterone  (ISO)
Deoxycorticosterone acetate  (ISO)
dextran sulfate  (ISO)
Di-n-octyl phthalate  (ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibenziodolium  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
diethyl phthalate  (ISO)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dioxygen  (ISO)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
ellagic acid  (ISO)
enalapril  (ISO)
endosulfan  (ISO)
eplerenone  (ISO)
ethanol  (EXP,ISO)
farrerol  (ISO)
fenamidone  (ISO)
flavonoids  (EXP)
folic acid  (ISO)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
ginsenoside Re  (ISO)
glucose  (EXP,ISO)
GW 6471  (ISO)
hexadecanoic acid  (ISO)
hydrochlorothiazide  (ISO)
hydrogen chloride  (ISO)
hydrogen peroxide  (EXP,ISO)
iron dextran  (ISO)
isobutanol  (EXP)
isoprenaline  (ISO)
ketamine  (ISO)
ketoconazole  (ISO)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
Lasiocarpine  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
liraglutide  (EXP)
loganin  (ISO)
losartan  (ISO)
lutein  (ISO)
manidipine  (EXP)
melatonin  (ISO)
menadione  (ISO)
mercury dichloride  (ISO)
metformin  (EXP,ISO)
methanol  (ISO)
methyl methanesulfonate  (EXP)
methylglyoxal  (EXP)
methylmercury chloride  (EXP)
Morroniside  (ISO)
N-acetyl-L-cysteine  (ISO)
N-formyl-L-methionyl-L-leucyl-L-phenylalanine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naringin  (EXP)
nebivolol  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nicotinamide  (ISO)
nicotinic acid  (ISO)
nitrates  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (EXP,ISO)
olmesartan  (ISO)
oxalic acid  (EXP)
oxycodone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
paricalcitol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phencyclidine  (ISO)
phenethyl caffeate  (ISO)
phenol  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pioglitazone  (EXP,ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pravastatin  (ISO)
probenecid  (EXP)
progesterone  (ISO)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
ramipril  (EXP,ISO)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
rosuvastatin calcium  (ISO)
rotenone  (ISO)
SB 203580  (ISO)
silicon dioxide  (ISO)
simvastatin  (EXP)
sirolimus  (ISO)
sirtinol  (ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
sodium fluoride  (EXP)
Soman  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
superoxide  (EXP,ISO)
tacrolimus hydrate  (EXP)
tamibarotene  (EXP)
tamoxifen  (ISO)
tebuconazole  (EXP)
telmisartan  (ISO)
testosterone  (EXP,ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trandolapril  (ISO)
triphenyl phosphate  (EXP,ISO)
triphenylstannane  (EXP)
troglitazone  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular response to amino acid stimulus  (IEA)
cellular response to angiotensin  (IEA,ISO)
cellular response to gamma radiation  (IEA,ISO)
cellular response to glucose stimulus  (IEA,ISO)
cellular response to L-glutamine  (IEA,ISO)
cellular response to mechanical stimulus  (IEA,ISO)
cellular response to phorbol 13-acetate 12-myristate  (ISO)
cellular response to tumor necrosis factor  (IEA,ISO)
cytochrome complex assembly  (IDA)
establishment of localization in cell  (IEA)
hydrogen peroxide biosynthetic process  (IEA,ISS)
inflammatory response  (IMP)
innate immune response  (IEA,IMP,ISS)
mucus secretion  (IEA)
negative regulation of glomerular filtration by angiotensin  (IEA,ISO)
positive regulation of blood pressure  (IEA,ISO)
positive regulation of cell growth  (IEA,ISO)
positive regulation of defense response to bacterium  (IDA)
positive regulation of endothelial cell proliferation  (IEA,ISO)
positive regulation of interleukin-6 production  (IDA)
positive regulation of mucus secretion  (IEA)
positive regulation of NAD(P)H oxidase activity  (ISO)
positive regulation of oxygen metabolic process  (ISO)
positive regulation of phagocytosis  (IDA)
positive regulation of reactive oxygen species biosynthetic process  (IDA)
positive regulation of smooth muscle cell proliferation  (IEA,ISO)
positive regulation of superoxide anion generation  (IEA,ISO)
positive regulation of toll-like receptor 2 signaling pathway  (IDA)
positive regulation of tumor necrosis factor production  (IDA)
reactive oxygen species metabolic process  (IEA)
regulation of release of sequestered calcium ion into cytosol  (IEA)
respiratory burst  (IMP,NAS)
response to activity  (IEA,ISO)
response to aldosterone  (IEA,ISO)
response to hypoxia  (IEA,ISO)
response to interleukin-1  (IEA,ISO)
response to nutrient levels  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISO)
smooth muscle hypertrophy  (IEA,ISS)
superoxide anion generation  (IBA,IDA,IEA,IMP)
superoxide metabolic process  (IEA,IMP,ISO)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. Expression of two temporally distinct microglia-related gene clusters after spinal cord injury. Byrnes KR, etal., Glia. 2006 Mar;53(4):420-33.
3. NIACIN AMELIORATES OXIDATIVE STRESS, INFLAMMATION, PROTEINURIA, AND HYPERTENSION IN RATS WITH CHRONIC RENAL FAILURE. Cho KH, etal., Am J Physiol Renal Physiol. 2009 May 6.
4. Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox). de Boer M, etal., Am J Hum Genet. 1992 Nov;51(5):1127-35.
5. Oxidative stress contributes to pulmonary hypertension in the transgenic (mRen2)27 rat. DeMarco VG, etal., Am J Physiol Heart Circ Physiol. 2008 Jun;294(6):H2659-68. Epub 2008 Apr 18.
6. Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. Dinauer MC, etal., J Clin Invest 1990 Nov;86(5):1729-37.
7. Expression of p22-phox and gp91-phox, essential components of NADPH oxidase, increases after myocardial infarction. Fukui T, etal., Biochem Biophys Res Commun. 2001 Mar;281(5):1200-6.
8. Role of kallistatin in prevention of cardiac remodeling after chronic myocardial infarction. Gao L, etal., Lab Invest. 2008 Nov;88(11):1157-66. Epub 2008 Sep 1.
9. The p22 phox A640G gene polymorphism but not the C242T gene variation is associated with coronary heart disease in younger individuals. Gardemann A, etal., Atherosclerosis. 1999 Aug;145(2):315-23.
10. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
11. [Expression of WAVE1 and p22phox in children with acute lymphocytic leukemia and the relationship of WAVE1 with oxidative stress]. He YL, etal., Zhongguo Dang Dai Er Ke Za Zhi. 2009 Feb;11(2):88-92.
12. Haplotype analysis of the NADPH oxidase p22 phox gene in patients with bronchial asthma. Izakovicova Holla L, etal., Int Arch Allergy Immunol. 2009;148(1):73-80. Epub 2008 Aug 21.
13. Role of AT1 receptors and NAD(P)H oxidase in diabetes-aggravated ischemic brain injury. Kusaka I, etal., Am J Physiol Heart Circ Physiol. 2004 Jun;286(6):H2442-51.
14. Genetic polymorphisms and susceptibility to lung disease. Lee PL, etal., J Negat Results Biomed. 2006 Apr 11;5:5.
15. Relationship between reduced nicotinamide adenine dinucleotide phosphate oxidase subunit p22phox gene polymorphism and obstructive sleep apnea-hypopnea syndrome in the Chinese Han population. Liu HG, etal., Chin Med J (Engl). 2009 Jun 20;122(12):1369-74.
16. [Nicotinamide-adenine dinucleotide phosphate oxidase p22phox expression in induced sputum cells for patients with obstructive sleep apnea hypopnea syndrome.] Liu HG, etal., Zhonghua Jie He He Hu Xi Za Zhi. 2010 Feb;33(2):118-22.
17. Relation between development of nephropathy and the p22phox C242T and receptor for advanced glycation end product G1704T gene polymorphisms in type 2 diabetic patients. Matsunaga-Irie S, etal., Diabetes Care. 2004 Feb;27(2):303-7.
18. Preliminary characterisation of the promoter of the human p22(phox) gene: identification of a new polymorphism associated with hypertension. Moreno MU, etal., FEBS Lett. 2003 May 8;542(1-3):27-31.
19. Pivotal Advance: Eosinophilia in the MES rat strain is caused by a loss-of-function mutation in the gene for cytochrome b(-245), alpha polypeptide (Cyba). Mori M, etal., J Leukoc Biol. 2009 Sep;86(3):473-8. doi: 10.1189/jlb.1108715. Epub 2009 Apr 30.
20. The role of NADPH oxidase in chronic intermittent hypoxia-induced pulmonary hypertension in mice. Nisbet RE, etal., Am J Respir Cell Mol Biol. 2009 May;40(5):601-9. Epub 2008 Oct 23.
21. Apocynin restores endothelial dysfunction in streptozotocin diabetic rats through regulation of nitric oxide synthase and NADPH oxidase expressions. Olukman M, etal., J Diabetes Complications. 2010 Mar 10.
22. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
23. Tumor necrosis factor-alpha induces endothelial dysfunction in the prediabetic metabolic syndrome. Picchi A, etal., Circ Res. 2006 Jul 7;99(1):69-77. Epub 2006 Jun 1.
24. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
25. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
26. [Polymorphism -930A > G of the cytochrome b gene is a novel genetic marker of predisposition to bronchial asthma] Polonikov AV, etal., Ter Arkh. 2009;81(3):31-5.
27. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
29. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. Asymmetric dimethylarginine in angiotensin II-induced hypertension. Sasser JM, etal., Am J Physiol Regul Integr Comp Physiol. 2010 Mar;298(3):R740-6. Epub 2009 Dec 16.
31. Possible role of exogenous cAMP to improve vascular endothelial dysfunction in hypertensive rats. Shah DI and Singh M, Fundam Clin Pharmacol. 2006 Dec;20(6):595-604.
32. Association of gene polymorphisms with coronary artery disease in individuals with or without nonfamilial hypercholesterolemia. Shimokata K, etal., Atherosclerosis. 2004 Jan;172(1):167-73.
33. Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. Teimourian S, etal., Br J Haematol. 2008 Jun;141(6):848-51. Epub 2008 Apr 18.
34. BN.MES-Cyba(mes) congenic rats manifest focal necrosis with eosinophilic infiltration in the liver without blood eosinophilia. Tomozawa H, etal., Exp Anim. 2010;59(4):469-78.
35. Genes for difference in eosinophilic phenotype between MES and BN.MES-Cyba(mes) rats are on chromosomes 9, 5, and 1. Tomozawa H, etal., Exp Anim. 2011;60(2):151-60.
36. CYP1A1, CYP1A2 and CYBA gene polymorphisms associated with oxidative stress in COPD. Vibhuti A, etal., Clin Chim Acta. 2010 Apr 2;411(7-8):474-80. Epub 2010 Jan 18.
37. [Effect of danzhi jiangtang capsule combined exercise on the protein expression of NADPH oxidase p22phox in pancreatic tissues of diabetic rats]. Wu YJ, etal., Zhongguo Zhong Xi Yi Jie He Za Zhi. 2013 May;33(5):641-5.
38. Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. Yamada M, etal., Br J Haematol. 2000 Mar;108(3):511-7.
39. Protective role of pigment epithelium-derived factor (PEDF) in early phase of experimental diabetic retinopathy. Yoshida Y, etal., Diabetes Metab Res Rev. 2009 Oct;25(7):678-86.
Additional References at PubMed
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PMID:18672803   PMID:18720901   PMID:18799874   PMID:18801380   PMID:18849343   PMID:18927546   PMID:19012493   PMID:19043982   PMID:19060904   PMID:19089790   PMID:19102345   PMID:19126404  
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PMID:19949658   PMID:19965945   PMID:20031716   PMID:20100625   PMID:20167518   PMID:20215507   PMID:20304964   PMID:20367096   PMID:20375611   PMID:20378006   PMID:20392440   PMID:20406964  
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PMID:20628086   PMID:20708598   PMID:21045268   PMID:21048031   PMID:21082491   PMID:21086617   PMID:21118808   PMID:21136016   PMID:21237524   PMID:21282351   PMID:21622150   PMID:21624462  
PMID:21640156   PMID:21699462   PMID:21777168   PMID:21873635   PMID:21884584   PMID:21962117   PMID:21973220   PMID:21988832   PMID:22268370   PMID:22357521   PMID:22396743   PMID:22410402  
PMID:22423966   PMID:22496489   PMID:22613645   PMID:22747689   PMID:22807997   PMID:22808130   PMID:22876374   PMID:22884975   PMID:22919264   PMID:22932942   PMID:22995606   PMID:22997914  
PMID:23409188   PMID:23576480   PMID:23684671   PMID:23701472   PMID:23755540   PMID:23821607   PMID:23905423   PMID:23922196   PMID:23949976   PMID:23957209   PMID:24033955   PMID:24035466  
PMID:24039708   PMID:24113386   PMID:24156725   PMID:24339896   PMID:24345348   PMID:24349292   PMID:24392120   PMID:24415302   PMID:24477591   PMID:24486703   PMID:24573492   PMID:24598074  
PMID:24647736   PMID:24864467   PMID:24890187   PMID:25095657   PMID:25173715   PMID:25252997   PMID:25307973   PMID:25416956   PMID:25569182   PMID:25572489   PMID:25599773   PMID:25619262  
PMID:25686830   PMID:25697362   PMID:25787042   PMID:25823784   PMID:25862415   PMID:25888935   PMID:25990054   PMID:26000926   PMID:26117319   PMID:26130419   PMID:26244812   PMID:26317224  
PMID:26415877   PMID:26467818   PMID:26607824   PMID:26627442   PMID:26760964   PMID:26852662   PMID:27048830   PMID:27162237   PMID:27314008   PMID:27607450   PMID:27614387   PMID:27870947  
PMID:27901128   PMID:27926811   PMID:28375031   PMID:28457704   PMID:28474233   PMID:28510479   PMID:28514442   PMID:28729471   PMID:28830888   PMID:28941186   PMID:29132304   PMID:29507755  
PMID:29924645   PMID:29948131   PMID:30044122   PMID:30087027   PMID:30226557   PMID:30296872   PMID:30654669   PMID:30665935   PMID:31527615   PMID:31536960   PMID:31847541   PMID:31871319  
PMID:32000019   PMID:32042072   PMID:32165681   PMID:32406080   PMID:32694731   PMID:33091151   PMID:33145364   PMID:33228505   PMID:33652340   PMID:33851807   PMID:33961781   PMID:34825364  
PMID:35031518   PMID:35073438   PMID:35173708   PMID:36114006   PMID:36122532   PMID:36163178   PMID:36241643   PMID:36413210   PMID:36421822   PMID:36606663   PMID:36626553   PMID:37288802  
PMID:37314216   PMID:37643785   PMID:37665479   PMID:38355798  


Genomics

Comparative Map Data
CYBA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381688,643,289 - 88,651,053 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1688,643,275 - 88,651,083 (-)EnsemblGRCh38hg38GRCh38
GRCh371688,709,697 - 88,717,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361687,237,198 - 87,244,958 (-)NCBINCBI36Build 36hg18NCBI36
Build 341687,237,198 - 87,244,950NCBI
Celera1673,779,369 - 73,787,129 (-)NCBICelera
Cytogenetic Map16q24.2NCBI
HuRef1674,403,728 - 74,411,523 (-)NCBIHuRef
CHM1_11690,120,999 - 90,128,842 (-)NCBICHM1_1
T2T-CHM13v2.01694,711,169 - 94,718,983 (-)NCBIT2T-CHM13v2.0
Cyba
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398123,151,510 - 123,159,679 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8123,151,515 - 123,159,669 (-)EnsemblGRCm39 Ensembl
GRCm388122,424,771 - 122,432,940 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8122,424,776 - 122,432,930 (-)EnsemblGRCm38mm10GRCm38
MGSCv378124,948,671 - 124,956,840 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368125,310,866 - 125,319,017 (-)NCBIMGSCv36mm8
Celera8126,653,882 - 126,662,049 (-)NCBICelera
Cytogenetic Map8E1NCBI
cM Map871.04NCBI
Cyba
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81967,396,143 - 67,404,214 (-)NCBIGRCr8
mRatBN7.21950,487,598 - 50,495,669 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1950,487,597 - 50,495,721 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1957,282,778 - 57,290,847 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01957,962,531 - 57,970,602 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01960,181,396 - 60,189,465 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01955,249,634 - 55,257,824 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1955,249,616 - 55,257,876 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01965,959,818 - 65,967,224 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41952,713,150 - 52,721,609 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11952,718,030 - 52,726,490 (-)NCBI
Celera1949,727,142 - 49,735,154 (-)NCBICelera
Cytogenetic Map19q12NCBI
LOC102004641
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555412,569,727 - 2,574,118 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555412,570,843 - 2,573,822 (-)NCBIChiLan1.0ChiLan1.0
LOC100986914
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21898,416,331 - 98,424,174 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan116104,328,442 - 104,336,271 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01669,356,396 - 69,364,225 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11689,016,349 - 89,024,719 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1689,016,349 - 89,024,719 (-)Ensemblpanpan1.1panPan2
CYBA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1564,692,865 - 64,701,056 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl564,692,123 - 64,704,893 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha564,703,545 - 64,711,735 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0564,912,202 - 64,920,393 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl564,911,577 - 64,920,464 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1564,938,335 - 64,946,503 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0564,770,091 - 64,778,279 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0565,176,122 - 65,184,313 (+)NCBIUU_Cfam_GSD_1.0
LOC101967032
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934925,283,408 - 25,291,407 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366411,036,967 - 1,044,991 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366411,036,967 - 1,044,954 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYBA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl61,015,162 - 1,021,420 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.161,015,212 - 1,021,422 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC103233451
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1574,023,134 - 74,030,793 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl574,023,082 - 74,030,750 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660471,654,155 - 1,661,751 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101717043
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624746911,842 - 919,362 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624746911,852 - 919,361 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CYBA
443 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000101.4(CYBA):c.240C>T (p.Phe80=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000546746] Chr16:88646802 [GRCh38]
Chr16:88713210 [GRCh37]
Chr16:16q24.2		 likely benign
NC_000016.10:g.(?_88638115)(88648115_88650955)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002344] Chr16:16q24 pathogenic
NM_000101.4:c.246del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002345] Chr16:16q24 pathogenic
NM_000101.4(CYBA):c.287+1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002350] Chr16:88646754 [GRCh38]
Chr16:88713162 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.288-13_310del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002354] Chr16:88646175..88646210 [GRCh38]
Chr16:88712583..88712618 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.386_433dup (p.Glu129_Ile144dup) duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000528809] Chr16:88643507..88643508 [GRCh38]
Chr16:88709915..88709916 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.269G>A (p.Arg90Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002346] Chr16:88646773 [GRCh38]
Chr16:88713181 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) single nucleotide variant Chronic granulomatous disease [RCV001731273]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002347]|not provided [RCV000059045] Chr16:88646131 [GRCh38]
Chr16:88712539 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) single nucleotide variant Chronic granulomatous disease [RCV000208600]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002348] Chr16:88643474 [GRCh38]
Chr16:88709882 [GRCh37]
Chr16:16q24.2		 pathogenic|not provided
NM_000101.4(CYBA):c.281A>G (p.His94Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002349]|not specified [RCV004799727] Chr16:88646761 [GRCh38]
Chr16:88713169 [GRCh37]
Chr16:16q24.2		 pathogenic|uncertain significance
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) single nucleotide variant CYBA POLYMORPHISM [RCV000002351]|Chronic granulomatous disease [RCV001826406]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000989646]|Very early onset inflammatory bowel disease [RCV000736011]|not provided [RCV001723534]|not specified [RCV000249071] Chr16:88646828 [GRCh38]
Chr16:88713236 [GRCh37]
Chr16:16q24.2		 likely pathogenic|benign
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) single nucleotide variant Chronic granulomatous disease [RCV001826407]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002352] Chr16:88651007 [GRCh38]
Chr16:88717415 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) single nucleotide variant Chronic granulomatous disease [RCV001274006]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002353]|not provided [RCV001093039] Chr16:88648103 [GRCh38]
Chr16:88714511 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic
NM_000101.4(CYBA):c.373G>A (p.Ala125Thr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002355] Chr16:88643568 [GRCh38]
Chr16:88709976 [GRCh37]
Chr16:16q24.2		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 copy number gain See cases [RCV000052428] Chr16:87853401..90081985 [GRCh38]
Chr16:87887007..90148393 [GRCh37]
Chr16:86444508..88675894 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1 copy number loss See cases [RCV000053380] Chr16:88640116..89530475 [GRCh38]
Chr16:88706524..89596883 [GRCh37]
Chr16:87234025..88124384 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1 copy number loss See cases [RCV000053362] Chr16:87306529..89269079 [GRCh38]
Chr16:87340135..89335487 [GRCh37]
Chr16:85897636..87862988 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1 copy number loss See cases [RCV000053363] Chr16:88159660..89506042 [GRCh38]
Chr16:88193266..89572450 [GRCh37]
Chr16:86750767..88099951 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
NM_000101.4(CYBA):c.155T>C (p.Leu52Pro) single nucleotide variant not provided [RCV000059042] Chr16:88647149 [GRCh38]
Chr16:88713557 [GRCh37]
Chr16:16q24.2		 pathogenic|not provided
NM_000101.4(CYBA):c.158A>T (p.Glu53Val) single nucleotide variant not provided [RCV000059043] Chr16:88647146 [GRCh38]
Chr16:88713554 [GRCh37]
Chr16:16q24.2		 not provided
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) single nucleotide variant Chronic granulomatous disease [RCV001271457]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000687649]|not provided [RCV000059044] Chr16:88646774 [GRCh38]
Chr16:88713182 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic|not provided
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) single nucleotide variant Chronic granulomatous disease [RCV004526610]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003497833]|Polyglandular autoimmune syndrome, type 1 [RCV004542731]|not provided [RCV000059046] Chr16:88643570 [GRCh38]
Chr16:88709978 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic|not provided
NM_000101.4(CYBA):c.74G>T (p.Gly25Val) single nucleotide variant not provided [RCV000059047]|not specified [RCV002298460] Chr16:88648099 [GRCh38]
Chr16:88714507 [GRCh37]
Chr16:16q24.2		 uncertain significance|not provided
NM_000101.4(CYBA):c.115G>A (p.Gly39Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001332188] Chr16:88648058 [GRCh38]
Chr16:88714466 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.203+8T>C single nucleotide variant Chronic granulomatous disease [RCV001832010]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001514023]|not provided [RCV001668339]|not specified [RCV000176978] Chr16:88647093 [GRCh38]
Chr16:88713501 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.521T>C (p.Val174Ala) single nucleotide variant Chronic granulomatous disease [RCV001826916]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001519084]|not provided [RCV001668343]|not specified [RCV000179254] Chr16:88643420 [GRCh38]
Chr16:88709828 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.264T>C (p.Tyr88=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002070132]|not provided [RCV001310340] Chr16:88646778 [GRCh38]
Chr16:88713186 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.476C>T (p.Pro159Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001349450] Chr16:88643465 [GRCh38]
Chr16:88709873 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 copy number gain See cases [RCV000138161] Chr16:87848216..90096995 [GRCh38]
Chr16:87881822..90163403 [GRCh37]
Chr16:86439323..88690904 [NCBI36]
Chr16:16q24.2-24.3		 likely pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1 copy number loss See cases [RCV000143624] Chr16:86950106..89335814 [GRCh38]
Chr16:86983712..89402222 [GRCh37]
Chr16:85541213..87929723 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3		 pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258442] Chr16:88556191..89557911 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258457] Chr16:88630607..89607742 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258180] Chr16:88230961..89363602 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258201] Chr16:88666177..89472627 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258213] Chr16:88165980..88914268 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258230] Chr16:87183661..89520803 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258283] Chr16:88643461..89611494 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258311] Chr16:88230760..89363742 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258380] Chr16:87340135..89335428 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) single nucleotide variant CYBA-related disorder [RCV003930018]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000558236]|not provided [RCV001310341]|not specified [RCV000239262] Chr16:88647125 [GRCh38]
Chr16:88713533 [GRCh37]
Chr16:16q24.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3 copy number gain See cases [RCV000240062] Chr16:87687199..89304429 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_000101.4(CYBA):c.381T>C (p.Arg127=) single nucleotide variant Chronic granulomatous disease [RCV001271455]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000548261]|not provided [RCV001640463]|not specified [RCV000246091] Chr16:88643560 [GRCh38]
Chr16:88709968 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.237G>C (p.Leu79=) single nucleotide variant Chronic granulomatous disease [RCV001274002]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000534259]|not provided [RCV001723831]|not specified [RCV000254035] Chr16:88646805 [GRCh38]
Chr16:88713213 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.246del (p.Phe83fs) deletion CYBA-related disorder [RCV004757277]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000757945]|not provided [RCV001816812] Chr16:88646796 [GRCh38]
Chr16:88713204 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3 copy number gain See cases [RCV000240352] Chr16:88601532..89713753 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_000101.4(CYBA):c.139G>A (p.Val47Met) single nucleotide variant Chronic granulomatous disease [RCV001828185]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001372266]|not provided [RCV000346878] Chr16:88647165 [GRCh38]
Chr16:88713573 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.204-4C>A single nucleotide variant CYBA-related disorder [RCV003947903]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001087533]|See cases [RCV002252083]|not provided [RCV000294209] Chr16:88646842 [GRCh38]
Chr16:88713250 [GRCh37]
Chr16:16q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000101.4(CYBA):c.403G>A (p.Glu135Lys) single nucleotide variant CYBA-related disorder [RCV003920153]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001080551]|not provided [RCV000766493]|not specified [RCV000294954] Chr16:88643538 [GRCh38]
Chr16:88709946 [GRCh37]
Chr16:16q24.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000101.4(CYBA):c.480G>A (p.Pro160=) single nucleotide variant Chronic granulomatous disease [RCV001271453]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000536141]|not provided [RCV001683157]|not specified [RCV000365802] Chr16:88643461 [GRCh38]
Chr16:88709869 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.415C>T (p.Arg139Trp) single nucleotide variant Chronic granulomatous disease [RCV001277893] Chr16:88643526 [GRCh38]
Chr16:88709934 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.273C>T (p.Ala91=) single nucleotide variant CYBA-related disorder [RCV003963170]|Chronic granulomatous disease [RCV001277894]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001464019] Chr16:88646769 [GRCh38]
Chr16:88713177 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_000101.4(CYBA):c.531G>A (p.Gly177=) single nucleotide variant Chronic granulomatous disease [RCV001277888]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001401484] Chr16:88643410 [GRCh38]
Chr16:88709818 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_000101.4(CYBA):c.135G>A (p.Ala45=) single nucleotide variant Chronic granulomatous disease [RCV001277896]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002069415] Chr16:88647169 [GRCh38]
Chr16:88713577 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_000101.4(CYBA):c.-6G>C single nucleotide variant Chronic granulomatous disease [RCV001277897] Chr16:88651019 [GRCh38]
Chr16:88717427 [GRCh37]
Chr16:16q24.2		 uncertain significance
Single allele duplication not specified [RCV000591675] Chr16:88709820..88709822 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000101.4(CYBA):c.415del (p.Arg139fs) deletion not provided [RCV000731967] Chr16:88643526 [GRCh38]
Chr16:88709934 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.288-3_300del deletion Chronic granulomatous disease [RCV003317353]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002536414]|not provided [RCV000728607] Chr16:88646185..88646200 [GRCh38]
Chr16:88712593..88712608 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NM_000101.4(CYBA):c.384C>T (p.Gly128=) single nucleotide variant Chronic granulomatous disease [RCV001825482]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001241945]|not provided [RCV000734389] Chr16:88643557 [GRCh38]
Chr16:88709965 [GRCh37]
Chr16:16q24.2		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup) microsatellite Chronic granulomatous disease [RCV001271479]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642285]|not provided [RCV000726743]|not specified [RCV003987555] Chr16:88643411..88643412 [GRCh38]
Chr16:88709819..88709820 [GRCh37]
Chr16:16q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1 copy number loss not provided [RCV000509325] Chr16:87219866..89561087 [GRCh37]
Chr16:16q24.2-24.3		 not provided
GRCh37/hg19 16q24.2-24.3(chr16:88104077-88958038)x3 copy number gain See cases [RCV000510568] Chr16:88104077..88958038 [GRCh37]
Chr16:16q24.2-24.3		 likely benign
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88116155-89524926)x1 copy number loss See cases [RCV000511455] Chr16:88116155..89524926 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88445490-89319419)x3 copy number gain See cases [RCV000511531] Chr16:88445490..89319419 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3		 likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NC_000016.10:g.88651083C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000672168]|not provided [RCV001574861] Chr16:88651083 [GRCh38]
Chr16:88717491 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.203+5G>A single nucleotide variant Chronic granulomatous disease [RCV001271488]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642287]|not specified [RCV003987638] Chr16:88647096 [GRCh38]
Chr16:88713504 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_000101.4(CYBA):c.36= (p.Glu12=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642290] Chr16:88650978 [GRCh38]
Chr16:88717386 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.173A>G (p.Lys58Arg) single nucleotide variant Chronic granulomatous disease [RCV001835039]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642286]|not provided [RCV000731902] Chr16:88647131 [GRCh38]
Chr16:88713539 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.294G>A (p.Ser98=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642291] Chr16:88646191 [GRCh38]
Chr16:88712599 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.287+10C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642293] Chr16:88646745 [GRCh38]
Chr16:88713153 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.274G>A (p.Val92Ile) single nucleotide variant Chronic granulomatous disease [RCV001834787]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000559735] Chr16:88646768 [GRCh38]
Chr16:88713176 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.491G>A (p.Arg164His) single nucleotide variant Chronic granulomatous disease [RCV001271452]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001243977]|not provided [RCV000524070] Chr16:88643450 [GRCh38]
Chr16:88709858 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_000101.4(CYBA):c.370-5C>T single nucleotide variant Chronic granulomatous disease [RCV001271485]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000535767] Chr16:88643576 [GRCh38]
Chr16:88709984 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3		 likely pathogenic
NM_000101.4(CYBA):c.549C>G (p.Pro183=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642292] Chr16:88643392 [GRCh38]
Chr16:88709800 [GRCh37]
Chr16:16q24.2		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
Single allele deletion not provided [RCV000677910] Chr16:86890893..89398630 [GRCh37]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
NM_000101.4(CYBA):c.166C>T (p.Arg56Trp) single nucleotide variant Chronic granulomatous disease [RCV001829899]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000687363] Chr16:88647138 [GRCh38]
Chr16:88713546 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.395C>T (p.Thr132Met) single nucleotide variant Chronic granulomatous disease [RCV001271484]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000687473]|Inborn genetic diseases [RCV003163115]|not provided [RCV005054244] Chr16:88643546 [GRCh38]
Chr16:88709954 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88317240-89079407)x3 copy number gain not provided [RCV000709990] Chr16:88317240..89079407 [GRCh37]
Chr16:16q24.2-24.3		 not provided
NM_000101.4(CYBA):c.193A>G (p.Met65Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000695756] Chr16:88647111 [GRCh38]
Chr16:88713519 [GRCh37]
Chr16:16q24.2		 uncertain significance|not provided
NM_000101.4(CYBA):c.140T>G (p.Val47Gly) single nucleotide variant not provided [RCV001530154] Chr16:88647164 [GRCh38]
Chr16:88713572 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NC_000016.10:g.88651309A>G single nucleotide variant not provided [RCV001585508] Chr16:88651309 [GRCh38]
Chr16:88717717 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.567G>A (p.Pro189=) single nucleotide variant CYBA-related disorder [RCV003945798]|Chronic granulomatous disease [RCV001271478]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001065485] Chr16:88643374 [GRCh38]
Chr16:88709782 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_000101.4(CYBA):c.288-15C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000757944] Chr16:88646212 [GRCh38]
Chr16:88712620 [GRCh37]
Chr16:16q24.2		 pathogenic
GRCh37/hg19 16q24.3(chr16:88713533-88799238)x1 copy number loss not provided [RCV000751821] Chr16:88713533..88799238 [GRCh37]
Chr16:16q24.3		 benign
NM_000101.4(CYBA):c.483C>T (p.Ala161=) single nucleotide variant Chronic granulomatous disease [RCV001271481]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000943426] Chr16:88643458 [GRCh38]
Chr16:88709866 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_000101.4(CYBA):c.63C>T (p.Leu21=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000943582] Chr16:88648110 [GRCh38]
Chr16:88714518 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.287+9C>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001470219] Chr16:88646746 [GRCh38]
Chr16:88713154 [GRCh37]
Chr16:16q24.2		 likely benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_000101.4(CYBA):c.6G>A (p.Gly2=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000928074] Chr16:88651008 [GRCh38]
Chr16:88717416 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.468G>C (p.Pro156=) single nucleotide variant Chronic granulomatous disease [RCV001277891]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001447995] Chr16:88643473 [GRCh38]
Chr16:88709881 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.59-5C>T single nucleotide variant CYBA-related disorder [RCV003970609]|Chronic granulomatous disease [RCV001271490]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000937548] Chr16:88648119 [GRCh38]
Chr16:88714527 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_000101.4(CYBA):c.405G>A (p.Glu135=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000941819] Chr16:88643536 [GRCh38]
Chr16:88709944 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.203+9C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001434149] Chr16:88647092 [GRCh38]
Chr16:88713500 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.525G>A (p.Ala175=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001450754] Chr16:88643416 [GRCh38]
Chr16:88709824 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.291C>G (p.Leu97=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000941289] Chr16:88646194 [GRCh38]
Chr16:88712602 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.241G>C (p.Gly81Arg) single nucleotide variant Chronic granulomatous disease [RCV001271458]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000822525]|not provided [RCV003235414] Chr16:88646801 [GRCh38]
Chr16:88713209 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.128+5C>T single nucleotide variant Chronic granulomatous disease [RCV001274004]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000814249] Chr16:88648040 [GRCh38]
Chr16:88714448 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.539C>G (p.Pro180Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000804858] Chr16:88643402 [GRCh38]
Chr16:88709810 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.199C>T (p.Arg67Cys) single nucleotide variant Chronic granulomatous disease [RCV001825577]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000799757] Chr16:88647105 [GRCh38]
Chr16:88713513 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.475C>T (p.Pro159Ser) single nucleotide variant Chronic granulomatous disease [RCV001271482]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000791637] Chr16:88643466 [GRCh38]
Chr16:88709874 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.58+4_58+7del microsatellite Chronic granulomatous disease [RCV004526773]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000796683] Chr16:88650949..88650952 [GRCh38]
Chr16:88717357..88717360 [GRCh37]
Chr16:16q24.2		 pathogenic|uncertain significance
NM_000101.4(CYBA):c.166del (p.Arg56fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000818649] Chr16:88647138 [GRCh38]
Chr16:88713546 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic
NM_000101.4(CYBA):c.527C>T (p.Ala176Val) single nucleotide variant Chronic granulomatous disease [RCV001271451]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000795755] Chr16:88643414 [GRCh38]
Chr16:88709822 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.422G>A (p.Arg141Gln) single nucleotide variant Chronic granulomatous disease [RCV001271483]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000810008] Chr16:88643519 [GRCh38]
Chr16:88709927 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.421C>T (p.Arg141Trp) single nucleotide variant Chronic granulomatous disease [RCV001271454]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000822506] Chr16:88643520 [GRCh38]
Chr16:88709928 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.128+5C>G single nucleotide variant Chronic granulomatous disease [RCV001830760]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000806989] Chr16:88648040 [GRCh38]
Chr16:88714448 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88697092-88791148)x1 copy number loss not provided [RCV000846887] Chr16:88697092..88791148 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NC_000016.9:g.(?_88709737)_(88718353_?)dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000801355] Chr16:88643329..88651945 [GRCh38]
Chr16:88709737..88718353 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.21del (p.Met8fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000805167] Chr16:88650993 [GRCh38]
Chr16:88717401 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.261C>G (p.Tyr87Ter) single nucleotide variant Chronic granulomatous disease [RCV001830682]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001384756]|not provided [RCV000788440] Chr16:88646781 [GRCh38]
Chr16:88713189 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.293C>T (p.Ser98Leu) single nucleotide variant Chronic granulomatous disease [RCV001825668]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000822936]|not provided [RCV002292587] Chr16:88646192 [GRCh38]
Chr16:88712600 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.350C>T (p.Ala117Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000811090] Chr16:88646135 [GRCh38]
Chr16:88712543 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.10:g.(?_88646106)_(88647185_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001031626] Chr16:88712514..88713593 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88453448-89569215)x1 copy number loss not provided [RCV000847422] Chr16:88453448..89569215 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_000101.4(CYBA):c.59-4G>A single nucleotide variant Chronic granulomatous disease [RCV001274007]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000891589]|not provided [RCV001712824] Chr16:88648118 [GRCh38]
Chr16:88714526 [GRCh37]
Chr16:16q24.2		 benign|likely benign
GRCh37/hg19 16q24.2-24.3(chr16:87848902-88809407)x3 copy number gain not provided [RCV000849210] Chr16:87848902..88809407 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_000101.4(CYBA):c.287+2T>C single nucleotide variant Chronic granulomatous disease [RCV001828951]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001240485] Chr16:88646753 [GRCh38]
Chr16:88713161 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic
NM_000101.4(CYBA):c.261C>A (p.Tyr87Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001225987] Chr16:88646781 [GRCh38]
Chr16:88713189 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.402C>G (p.Ile134Met) single nucleotide variant Chronic granulomatous disease [RCV001829004]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001242836] Chr16:88643539 [GRCh38]
Chr16:88709947 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.288-3del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001222041] Chr16:88646200 [GRCh38]
Chr16:88712608 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.369+3G>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001232642] Chr16:88646113 [GRCh38]
Chr16:88712521 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.59-144G>A single nucleotide variant not provided [RCV001576241] Chr16:88648258 [GRCh38]
Chr16:88714666 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.370-50G>A single nucleotide variant not provided [RCV001637268] Chr16:88643621 [GRCh38]
Chr16:88710029 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.370-188C>G single nucleotide variant not provided [RCV001586852] Chr16:88643759 [GRCh38]
Chr16:88710167 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.301G>A (p.Ala101Thr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001580691] Chr16:88646184 [GRCh38]
Chr16:88712592 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.226G>A (p.Val76Met) single nucleotide variant Chronic granulomatous disease [RCV001277895]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001027779]|not provided [RCV004797886] Chr16:88646816 [GRCh38]
Chr16:88713224 [GRCh37]
Chr16:16q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000101.4(CYBA):c.243G>A (p.Gly81=) single nucleotide variant Chronic granulomatous disease [RCV001271487]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000930997] Chr16:88646799 [GRCh38]
Chr16:88713207 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_000101.4(CYBA):c.576C>T (p.Asp192=) single nucleotide variant Granulomatous disease, chronic, X-linked [RCV001271477]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000940801] Chr16:88643365 [GRCh38]
Chr16:88709773 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_000101.4(CYBA):c.333C>T (p.Thr111=) single nucleotide variant Chronic granulomatous disease [RCV001271486]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000941519] Chr16:88646152 [GRCh38]
Chr16:88712560 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_000101.4(CYBA):c.69C>T (p.Thr23=) single nucleotide variant Chronic granulomatous disease [RCV001271489]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000909443] Chr16:88648104 [GRCh38]
Chr16:88714512 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_000101.4(CYBA):c.303C>T (p.Ala101=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001459197] Chr16:88646182 [GRCh38]
Chr16:88712590 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.426G>A (p.Pro142=) single nucleotide variant Chronic granulomatous disease [RCV001826956]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000932059] Chr16:88643515 [GRCh38]
Chr16:88709923 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.495G>A (p.Lys165=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001467216] Chr16:88643446 [GRCh38]
Chr16:88709854 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.479C>G (p.Pro160Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001071110] Chr16:88643462 [GRCh38]
Chr16:88709870 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.452C>T (p.Pro151Leu) single nucleotide variant Chronic granulomatous disease [RCV001828770]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001222177] Chr16:88643489 [GRCh38]
Chr16:88709897 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.583G>A (p.Val195Met) single nucleotide variant Chronic granulomatous disease [RCV001836186]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001231971] Chr16:88643358 [GRCh38]
Chr16:88709766 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.539C>T (p.Pro180Leu) single nucleotide variant Chronic granulomatous disease [RCV001828650]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001205870] Chr16:88643402 [GRCh38]
Chr16:88709810 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.134C>T (p.Ala45Val) single nucleotide variant Chronic granulomatous disease [RCV001835183]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001243784] Chr16:88647170 [GRCh38]
Chr16:88713578 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.223G>A (p.Ala75Thr) single nucleotide variant Chronic granulomatous disease [RCV001274003]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001047762]|not provided [RCV003326531] Chr16:88646819 [GRCh38]
Chr16:88713227 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.418G>A (p.Glu140Lys) single nucleotide variant Chronic granulomatous disease [RCV001828982]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001241615] Chr16:88643523 [GRCh38]
Chr16:88709931 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.204-2A>G single nucleotide variant Chronic granulomatous disease [RCV001828796]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001225583] Chr16:88646840 [GRCh38]
Chr16:88713248 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.189C>T (p.Ser63=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000935660] Chr16:88647115 [GRCh38]
Chr16:88713523 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.132G>A (p.Val44=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001563893] Chr16:88647172 [GRCh38]
Chr16:88713580 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.370-49G>A single nucleotide variant not provided [RCV001677745] Chr16:88643620 [GRCh38]
Chr16:88710028 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.369+205A>G single nucleotide variant not provided [RCV001596712] Chr16:88645911 [GRCh38]
Chr16:88712319 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.58+79A>G single nucleotide variant not provided [RCV001636563] Chr16:88650877 [GRCh38]
Chr16:88717285 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.59-288G>A single nucleotide variant not provided [RCV001676592] Chr16:88648402 [GRCh38]
Chr16:88714810 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.577G>A (p.Glu193Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001047257] Chr16:88643364 [GRCh38]
Chr16:88709772 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.171del (p.Lys58fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001580564]|not provided [RCV001093038] Chr16:88647133 [GRCh38]
Chr16:88713541 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.58+290C>T single nucleotide variant not provided [RCV001609548] Chr16:88650666 [GRCh38]
Chr16:88717074 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.370-116C>T single nucleotide variant not provided [RCV001649892] Chr16:88643687 [GRCh38]
Chr16:88710095 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.26G>A (p.Trp9Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001069145] Chr16:88650988 [GRCh38]
Chr16:88717396 [GRCh37]
Chr16:16q24.2		 pathogenic
NC_000016.10:g.(?_88643329)_(88648134_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001033676] Chr16:88709737..88714542 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000101.4(CYBA):c.203+102_404del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001048168] Chr16:88643537..88646999 [GRCh38]
Chr16:88709945..88713407 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NC_000016.10:g.(?_88643329)_(88643581_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001031305] Chr16:88709737..88709989 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000101.4(CYBA):c.288-175T>G single nucleotide variant not provided [RCV001693042] Chr16:88646372 [GRCh38]
Chr16:88712780 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.574G>C (p.Asp192His) single nucleotide variant Chronic granulomatous disease [RCV001828747]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001219690] Chr16:88643367 [GRCh38]
Chr16:88709775 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_000101.4(CYBA):c.211A>C (p.Lys71Gln) single nucleotide variant Chronic granulomatous disease [RCV001828722]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001217284] Chr16:88646831 [GRCh38]
Chr16:88713239 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.304G>A (p.Gly102Ser) single nucleotide variant CYBA-related disorder [RCV004757369]|Chronic granulomatous disease [RCV001271456]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001057912] Chr16:88646181 [GRCh38]
Chr16:88712589 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.94C>T (p.Arg32Cys) single nucleotide variant Chronic granulomatous disease [RCV001274005]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001052326] Chr16:88648079 [GRCh38]
Chr16:88714487 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.257A>G (p.Asn86Ser) single nucleotide variant Chronic granulomatous disease [RCV001833795]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001204095] Chr16:88646785 [GRCh38]
Chr16:88713193 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.295del (p.Val99fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001211585] Chr16:88646190 [GRCh38]
Chr16:88712598 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic
NM_000101.4(CYBA):c.505G>A (p.Glu169Lys) single nucleotide variant Chronic granulomatous disease [RCV001271480]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001056283] Chr16:88643436 [GRCh38]
Chr16:88709844 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.486G>C (p.Glu162Asp) single nucleotide variant Chronic granulomatous disease [RCV001827409]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001063808] Chr16:88643455 [GRCh38]
Chr16:88709863 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.59-300del deletion not provided [RCV001641568] Chr16:88648414 [GRCh38]
Chr16:88714822 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.448C>G (p.Gln150Glu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001349897] Chr16:88643493 [GRCh38]
Chr16:88709901 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.393G>A (p.Trp131Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001335108] Chr16:88643548 [GRCh38]
Chr16:88709956 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.422_427del (p.Arg141_Pro142del) deletion Chronic granulomatous disease [RCV001277892] Chr16:88643514..88643519 [GRCh38]
Chr16:88709922..88709927 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3 copy number gain not provided [RCV001258663] Chr16:88222732..90155062 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_000101.4(CYBA):c.36A>C (p.Glu12Asp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001296139] Chr16:88650978 [GRCh38]
Chr16:88717386 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.408C>G (p.Pro136=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001391988] Chr16:88643533 [GRCh38]
Chr16:88709941 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.168G>A (p.Arg56=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001422789] Chr16:88647136 [GRCh38]
Chr16:88713544 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.58+294G>C single nucleotide variant not provided [RCV001538338] Chr16:88650662 [GRCh38]
Chr16:88717070 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.135G>C (p.Ala45=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001392446] Chr16:88647169 [GRCh38]
Chr16:88713577 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.249T>C (p.Phe83=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001392769] Chr16:88646793 [GRCh38]
Chr16:88713201 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.345C>T (p.Ala115=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001392317] Chr16:88646140 [GRCh38]
Chr16:88712548 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.553G>A (p.Val185Ile) single nucleotide variant Chronic granulomatous disease [RCV001836281]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001308608] Chr16:88643388 [GRCh38]
Chr16:88709796 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.370-3C>T single nucleotide variant Chronic granulomatous disease [RCV001835616]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001321566] Chr16:88643574 [GRCh38]
Chr16:88709982 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.61C>T (p.Leu21Phe) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001346716] Chr16:88648112 [GRCh38]
Chr16:88714520 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.425C>T (p.Pro142Leu) single nucleotide variant Chronic granulomatous disease [RCV001830183]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001301746] Chr16:88643516 [GRCh38]
Chr16:88709924 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.516T>G (p.Ala172=) single nucleotide variant Chronic granulomatous disease [RCV001277889]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005057199] Chr16:88643425 [GRCh38]
Chr16:88709833 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_000101.4(CYBA):c.515C>G (p.Ala172Gly) single nucleotide variant Chronic granulomatous disease [RCV001277890] Chr16:88643426 [GRCh38]
Chr16:88709834 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.379C>A (p.Arg127Ser) single nucleotide variant Chronic granulomatous disease [RCV001825924]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001346153] Chr16:88643562 [GRCh38]
Chr16:88709970 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.95G>T (p.Arg32Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001321013] Chr16:88648078 [GRCh38]
Chr16:88714486 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.314T>G (p.Leu105Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001363658] Chr16:88646171 [GRCh38]
Chr16:88712579 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.166C>G (p.Arg56Gly) single nucleotide variant Chronic granulomatous disease [RCV001826110]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001373080] Chr16:88647138 [GRCh38]
Chr16:88713546 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.95G>A (p.Arg32His) single nucleotide variant Chronic granulomatous disease [RCV001830144]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001297392] Chr16:88648078 [GRCh38]
Chr16:88714486 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.564C>T (p.Ile188=) single nucleotide variant CYBA-related disorder [RCV003965790]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001421183]|not provided [RCV003416329] Chr16:88643377 [GRCh38]
Chr16:88709785 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.237G>A (p.Leu79=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001421401] Chr16:88646805 [GRCh38]
Chr16:88713213 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.288-9G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001416847] Chr16:88646206 [GRCh38]
Chr16:88712614 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.128+2T>C single nucleotide variant Chronic granulomatous disease [RCV001826131]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001377848] Chr16:88648043 [GRCh38]
Chr16:88714451 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NM_000101.4(CYBA):c.369+10G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001470179] Chr16:88646106 [GRCh38]
Chr16:88712514 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.399C>T (p.Pro133=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001485778] Chr16:88643542 [GRCh38]
Chr16:88709950 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.128+10del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001399888] Chr16:88648035 [GRCh38]
Chr16:88714443 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.432C>T (p.Ile144=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001417551] Chr16:88643509 [GRCh38]
Chr16:88709917 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.*24G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001515737]|not provided [RCV001538508]|not specified [RCV003487347] Chr16:88643329 [GRCh38]
Chr16:88709737 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.444C>T (p.Ile148=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001486315] Chr16:88643497 [GRCh38]
Chr16:88709905 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.288-9G>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001439061] Chr16:88646206 [GRCh38]
Chr16:88712614 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.426G>C (p.Pro142=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001455425] Chr16:88643515 [GRCh38]
Chr16:88709923 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.372G>A (p.Ala124=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001491549] Chr16:88643569 [GRCh38]
Chr16:88709977 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.150C>T (p.Cys50=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001472058] Chr16:88647154 [GRCh38]
Chr16:88713562 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.151C>T (p.Leu51=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001403449] Chr16:88647153 [GRCh38]
Chr16:88713561 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.564C>A (p.Ile188=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001480725] Chr16:88643377 [GRCh38]
Chr16:88709785 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.384C>A (p.Gly128=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001488163] Chr16:88643557 [GRCh38]
Chr16:88709965 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.468G>A (p.Pro156=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001431988] Chr16:88643473 [GRCh38]
Chr16:88709881 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.313C>T (p.Leu105=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001501154] Chr16:88646172 [GRCh38]
Chr16:88712580 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.294G>C (p.Ser98=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001498921] Chr16:88646191 [GRCh38]
Chr16:88712599 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.370-7C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001409252] Chr16:88643578 [GRCh38]
Chr16:88709986 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.370-4G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001409587] Chr16:88643575 [GRCh38]
Chr16:88709983 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.225C>T (p.Ala75=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001428711] Chr16:88646817 [GRCh38]
Chr16:88713225 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.102C>G (p.Thr34=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001445967] Chr16:88648071 [GRCh38]
Chr16:88714479 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.471G>A (p.Pro157=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001407004] Chr16:88643470 [GRCh38]
Chr16:88709878 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.354C>T (p.Ser118=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001441311] Chr16:88646131 [GRCh38]
Chr16:88712539 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.498G>A (p.Lys166=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001439903] Chr16:88643443 [GRCh38]
Chr16:88709851 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.21C>T (p.Ala7=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001449518] Chr16:88650993 [GRCh38]
Chr16:88717401 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.453G>A (p.Pro151=) single nucleotide variant Chronic granulomatous disease [RCV001826269]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001447113] Chr16:88643488 [GRCh38]
Chr16:88709896 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.111C>G (p.Tyr37Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001383797] Chr16:88648062 [GRCh38]
Chr16:88714470 [GRCh37]
Chr16:16q24.2		 pathogenic
NC_000016.9:g.(?_88709737)_(89220635_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001388209] Chr16:88709737..89220635 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_88713499)_(88714532_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001388210] Chr16:88713499..88714532 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000101.4(CYBA):c.396G>T (p.Thr132=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001437826] Chr16:88643545 [GRCh38]
Chr16:88709953 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.156G>C (p.Leu52=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001410626] Chr16:88647148 [GRCh38]
Chr16:88713556 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.566C>G (p.Pro189Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001410986] Chr16:88643375 [GRCh38]
Chr16:88709783 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.210G>A (p.Gln70=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001411083] Chr16:88646832 [GRCh38]
Chr16:88713240 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.351G>A (p.Ala117=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001419442] Chr16:88646134 [GRCh38]
Chr16:88712542 [GRCh37]
Chr16:16q24.2		 likely benign
NC_000016.9:g.(?_88709946)_88713408del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001377346]   likely pathogenic
NM_000101.4(CYBA):c.561C>T (p.Pro187=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001448060] Chr16:88643380 [GRCh38]
Chr16:88709788 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.54_58+20del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001379990] Chr16:88650936..88650960 [GRCh38]
Chr16:88717344..88717368 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NM_000101.4(CYBA):c.345del (p.Ile116fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001377396] Chr16:88646140 [GRCh38]
Chr16:88712548 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NM_000101.4(CYBA):c.141G>A (p.Val47=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001400430] Chr16:88647163 [GRCh38]
Chr16:88713571 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.231G>A (p.Val77=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001428513] Chr16:88646811 [GRCh38]
Chr16:88713219 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.203+12_203+14del microsatellite Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001448437] Chr16:88647087..88647089 [GRCh38]
Chr16:88713495..88713497 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.237G>T (p.Leu79=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001454516] Chr16:88646805 [GRCh38]
Chr16:88713213 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.58+7G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001468656] Chr16:88650949 [GRCh38]
Chr16:88717357 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.450G>A (p.Gln150=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001502632] Chr16:88643491 [GRCh38]
Chr16:88709899 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.528G>A (p.Ala176=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001469026] Chr16:88643413 [GRCh38]
Chr16:88709821 [GRCh37]
Chr16:16q24.2		 likely benign|conflicting interpretations of pathogenicity
NM_000101.4(CYBA):c.287+10C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001496790] Chr16:88646745 [GRCh38]
Chr16:88713153 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.288-162T>C single nucleotide variant not provided [RCV001619222] Chr16:88646359 [GRCh38]
Chr16:88712767 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.59-37G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001527111]|not provided [RCV001712947]|not specified [RCV003487425] Chr16:88648151 [GRCh38]
Chr16:88714559 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.288-177T>C single nucleotide variant not provided [RCV001536530] Chr16:88646374 [GRCh38]
Chr16:88712782 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.204-8_204-5del microsatellite Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001487294] Chr16:88646843..88646846 [GRCh38]
Chr16:88713251..88713254 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.204-4C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001497682] Chr16:88646842 [GRCh38]
Chr16:88713250 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.291C>T (p.Leu97=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001500822] Chr16:88646194 [GRCh38]
Chr16:88712602 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.351G>T (p.Ala117=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001463795] Chr16:88646134 [GRCh38]
Chr16:88712542 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.198G>A (p.Glu66=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001456749] Chr16:88647106 [GRCh38]
Chr16:88713514 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.402C>T (p.Ile134=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001469565] Chr16:88643539 [GRCh38]
Chr16:88709947 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.521_522inv (p.Val174Ala) inversion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001457006] Chr16:88643419..88643420 [GRCh38]
Chr16:88709827..88709828 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.59-7C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001482002] Chr16:88648121 [GRCh38]
Chr16:88714529 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.33C>T (p.Asn11=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001490751] Chr16:88650981 [GRCh38]
Chr16:88717389 [GRCh37]
Chr16:16q24.2		 likely benign
NC_000016.10:g.88651688A>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001511997] Chr16:88651688 [GRCh38]
Chr16:88718096 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.204-2del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001388520] Chr16:88646840 [GRCh38]
Chr16:88713248 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.519G>A (p.Ala173=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001462843] Chr16:88643422 [GRCh38]
Chr16:88709830 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.306C>T (p.Gly102=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001500372] Chr16:88646179 [GRCh38]
Chr16:88712587 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.114T>C (p.Phe38=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001502100] Chr16:88648059 [GRCh38]
Chr16:88714467 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.348T>C (p.Ile116=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001484933] Chr16:88646137 [GRCh38]
Chr16:88712545 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.287+2_287+3del microsatellite Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001378333] Chr16:88646752..88646753 [GRCh38]
Chr16:88713160..88713161 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NM_000101.4(CYBA):c.*49T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001527103]|not provided [RCV001724338]|not specified [RCV003487423] Chr16:88643304 [GRCh38]
Chr16:88709712 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.166C>A (p.Arg56=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001443171] Chr16:88647138 [GRCh38]
Chr16:88713546 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.540G>A (p.Pro180=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001415777] Chr16:88643401 [GRCh38]
Chr16:88709809 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.36A>G (p.Glu12=) single nucleotide variant Chronic granulomatous disease [RCV001832705]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001519085]|not provided [RCV001712933]|not specified [RCV003487384] Chr16:88650978 [GRCh38]
Chr16:88717386 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.203+36C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001527110]|not provided [RCV001673108]|not specified [RCV003487424] Chr16:88647065 [GRCh38]
Chr16:88713473 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.375T>C (p.Ala125=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001393149] Chr16:88643566 [GRCh38]
Chr16:88709974 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.183G>A (p.Lys61=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001400476] Chr16:88647121 [GRCh38]
Chr16:88713529 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.204-4C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001456460] Chr16:88646842 [GRCh38]
Chr16:88713250 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.129-1G>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001379559] Chr16:88647176 [GRCh38]
Chr16:88713584 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NM_000101.4(CYBA):c.369+1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001377368] Chr16:88646115 [GRCh38]
Chr16:88712523 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NC_000016.10:g.88651945C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001518209]|not provided [RCV004710284] Chr16:88651945 [GRCh38]
Chr16:88718353 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.166dup (p.Arg56fs) duplication Chronic granulomatous disease [RCV001831390]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001384757] Chr16:88647137..88647138 [GRCh38]
Chr16:88713545..88713546 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.167G>A (p.Arg56Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003109032] Chr16:88647137 [GRCh38]
Chr16:88713545 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_87636753)_(90109753_?)dup duplication Fanconi anemia [RCV004579589]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003119313]|Primary ciliary dyskinesia 33 [RCV003109228] Chr16:87636753..90109753 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_000101.4(CYBA):c.79G>A (p.Val27Met) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002541254]|Inborn genetic diseases [RCV004980690]|not provided [RCV001786976] Chr16:88648094 [GRCh38]
Chr16:88714502 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
NM_000101.4(CYBA):c.288-202C>T single nucleotide variant not provided [RCV001732986] Chr16:88646399 [GRCh38]
Chr16:88712807 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.60C>G (p.Ile20Met) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001889373] Chr16:88648113 [GRCh38]
Chr16:88714521 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.59-2A>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002001450] Chr16:88648116 [GRCh38]
Chr16:88714524 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic
NM_000101.4(CYBA):c.167G>T (p.Arg56Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001914368] Chr16:88647137 [GRCh38]
Chr16:88713545 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.399del (p.Ile134fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001864543] Chr16:88643542 [GRCh38]
Chr16:88709950 [GRCh37]
Chr16:16q24.2		 pathogenic|uncertain significance
NM_000101.4(CYBA):c.335C>T (p.Ala112Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001966285] Chr16:88646150 [GRCh38]
Chr16:88712558 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.403G>C (p.Glu135Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002025262] Chr16:88643538 [GRCh38]
Chr16:88709946 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.1A>T (p.Met1Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001863260] Chr16:88651013 [GRCh38]
Chr16:88717421 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_88713499)_(88718353_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001950146] Chr16:88713499..88718353 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000101.4(CYBA):c.401T>A (p.Ile134Asn) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001894279] Chr16:88643540 [GRCh38]
Chr16:88709948 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3 copy number gain not provided [RCV001829158] Chr16:88000389..90155062 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_000101.4(CYBA):c.281A>C (p.His94Pro) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002039679] Chr16:88646761 [GRCh38]
Chr16:88713169 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.169G>A (p.Gly57Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001945280] Chr16:88647135 [GRCh38]
Chr16:88713543 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.511G>T (p.Glu171Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001889897] Chr16:88643430 [GRCh38]
Chr16:88709838 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_88709761)_(89623501_?)dup duplication Hereditary spastic paraplegia 7 [RCV002020725] Chr16:88709761..89623501 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_000101.4(CYBA):c.501del (p.Ser168fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002036460] Chr16:88643440 [GRCh38]
Chr16:88709848 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.369+11C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001999860] Chr16:88646105 [GRCh38]
Chr16:88712513 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.472C>T (p.Arg158Trp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001990589] Chr16:88643469 [GRCh38]
Chr16:88709877 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_88717354)_(88718353_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001956331] Chr16:88717354..88718353 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000101.4(CYBA):c.472_484del (p.Pro160fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002015070]|not specified [RCV002307826] Chr16:88643457..88643469 [GRCh38]
Chr16:88709865..88709877 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic|uncertain significance
NM_000101.4(CYBA):c.415C>G (p.Arg139Gly) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001976955] Chr16:88643526 [GRCh38]
Chr16:88709934 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.467_479del (p.Pro156fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002013590] Chr16:88643462..88643474 [GRCh38]
Chr16:88709870..88709882 [GRCh37]
Chr16:16q24.2		 pathogenic|uncertain significance
NM_000101.4(CYBA):c.548C>G (p.Pro183Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001935513] Chr16:88643393 [GRCh38]
Chr16:88709801 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_87636753)_(89723996_?)dup duplication Mucopolysaccharidosis, MPS-IV-A [RCV001939908] Chr16:87636753..89723996 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_000101.4(CYBA):c.240C>A (p.Phe80Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001990790] Chr16:88646802 [GRCh38]
Chr16:88713210 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_88712514)_(88718096_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001975029] Chr16:88712514..88718096 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_000101.4(CYBA):c.77del (p.Ile26fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001975164] Chr16:88648096 [GRCh38]
Chr16:88714504 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.58+5G>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002036775] Chr16:88650951 [GRCh38]
Chr16:88717359 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.163C>T (p.Pro55Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001934194] Chr16:88647141 [GRCh38]
Chr16:88713549 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.467C>T (p.Pro156Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001904370] Chr16:88643474 [GRCh38]
Chr16:88709882 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.268C>G (p.Arg90Gly) single nucleotide variant CYBA-related disorder [RCV003893090]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002036378] Chr16:88646774 [GRCh38]
Chr16:88713182 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic
NM_000101.4(CYBA):c.380G>A (p.Arg127His) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001906711] Chr16:88643561 [GRCh38]
Chr16:88709969 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.574G>A (p.Asp192Asn) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001934013]|Inborn genetic diseases [RCV002562117] Chr16:88643367 [GRCh38]
Chr16:88709775 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.380G>T (p.Arg127Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002031860] Chr16:88643561 [GRCh38]
Chr16:88709969 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.121T>A (p.Tyr41Asn) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002010950] Chr16:88648052 [GRCh38]
Chr16:88714460 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.17G>A (p.Trp6Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001975001] Chr16:88650997 [GRCh38]
Chr16:88717405 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.478_490del (p.Pro160fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001990521] Chr16:88643451..88643463 [GRCh38]
Chr16:88709859..88709871 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.524C>T (p.Ala175Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001989619] Chr16:88643417 [GRCh38]
Chr16:88709825 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.369+9C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002105257] Chr16:88646107 [GRCh38]
Chr16:88712515 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.387G>A (p.Glu129=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002128841] Chr16:88643554 [GRCh38]
Chr16:88709962 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.222C>T (p.Thr74=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002110555] Chr16:88646820 [GRCh38]
Chr16:88713228 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.555C>A (p.Val185=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002167164] Chr16:88643386 [GRCh38]
Chr16:88709794 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.204-20C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002092656] Chr16:88646858 [GRCh38]
Chr16:88713266 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.204-10C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002205613] Chr16:88646848 [GRCh38]
Chr16:88713256 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.186C>T (p.Gly62=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002126023] Chr16:88647118 [GRCh38]
Chr16:88713526 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.15G>A (p.Glu5=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002186797] Chr16:88650999 [GRCh38]
Chr16:88717407 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.129-11C>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002165547] Chr16:88647186 [GRCh38]
Chr16:88713594 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.287+9C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002129064] Chr16:88646746 [GRCh38]
Chr16:88713154 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.204-9_204-3dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002188810] Chr16:88646840..88646841 [GRCh38]
Chr16:88713248..88713249 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.59-13C>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002091910] Chr16:88648127 [GRCh38]
Chr16:88714535 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.51C>G (p.Ser17=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002116448] Chr16:88650963 [GRCh38]
Chr16:88717371 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.162C>T (p.Tyr54=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002152454] Chr16:88647142 [GRCh38]
Chr16:88713550 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.78C>T (p.Ile26=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002152496]|not provided [RCV004706357] Chr16:88648095 [GRCh38]
Chr16:88714503 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.399C>G (p.Pro133=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002171425] Chr16:88643542 [GRCh38]
Chr16:88709950 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.59-20dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002108379] Chr16:88648133..88648134 [GRCh38]
Chr16:88714541..88714542 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.288-13C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002213891] Chr16:88646210 [GRCh38]
Chr16:88712618 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.141G>C (p.Val47=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002185805] Chr16:88647163 [GRCh38]
Chr16:88713571 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.370-20A>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002134854] Chr16:88643591 [GRCh38]
Chr16:88709999 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.99C>T (p.Phe33=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002196491] Chr16:88648074 [GRCh38]
Chr16:88714482 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.58+13C>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002194687] Chr16:88650943 [GRCh38]
Chr16:88717351 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.204-11C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002104350] Chr16:88646849 [GRCh38]
Chr16:88713257 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.369+18A>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002130660] Chr16:88646098 [GRCh38]
Chr16:88712506 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.42G>C (p.Ala14=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002174283] Chr16:88650972 [GRCh38]
Chr16:88717380 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.287+15C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002087388] Chr16:88646740 [GRCh38]
Chr16:88713148 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.96C>G (p.Arg32=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002093675] Chr16:88648077 [GRCh38]
Chr16:88714485 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.300C>T (p.Pro100=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002215686] Chr16:88646185 [GRCh38]
Chr16:88712593 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.123C>T (p.Tyr41=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002187874] Chr16:88648050 [GRCh38]
Chr16:88714458 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.51C>T (p.Ser17=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002138125] Chr16:88650963 [GRCh38]
Chr16:88717371 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.153G>C (p.Leu51=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002200306] Chr16:88647151 [GRCh38]
Chr16:88713559 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.537C>T (p.Pro179=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002118494] Chr16:88643404 [GRCh38]
Chr16:88709812 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.528G>C (p.Ala176=) single nucleotide variant CYBA-related disorder [RCV003951306]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002200781] Chr16:88643413 [GRCh38]
Chr16:88709821 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.153G>A (p.Leu51=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002178318] Chr16:88647151 [GRCh38]
Chr16:88713559 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.58+10C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002175470] Chr16:88650946 [GRCh38]
Chr16:88717354 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.129-10A>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002200093] Chr16:88647185 [GRCh38]
Chr16:88713593 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.360C>T (p.Ile120=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002156914] Chr16:88646125 [GRCh38]
Chr16:88712533 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.522G>A (p.Val174=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002204743] Chr16:88643419 [GRCh38]
Chr16:88709827 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.384C>G (p.Gly128=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002159022] Chr16:88643557 [GRCh38]
Chr16:88709965 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.381T>G (p.Arg127=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002160667] Chr16:88643560 [GRCh38]
Chr16:88709968 [GRCh37]
Chr16:16q24.2		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_000101.4(CYBA):c.154C>T (p.Leu52=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002181546] Chr16:88647150 [GRCh38]
Chr16:88713558 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.396G>A (p.Thr132=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002178786] Chr16:88643545 [GRCh38]
Chr16:88709953 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.573C>T (p.Thr191=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002180435] Chr16:88643368 [GRCh38]
Chr16:88709776 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.541G>C (p.Gly181Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003115636]|Inborn genetic diseases [RCV003274325] Chr16:88643400 [GRCh38]
Chr16:88709808 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.433G>A (p.Gly145Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003096010]|not specified [RCV002266225] Chr16:88643508 [GRCh38]
Chr16:88709916 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NC_000016.9:g.88365786_89584412del1218627 deletion KBG syndrome [RCV002275248] Chr16:88365786..89584412 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_000101.4(CYBA):c.74G>A (p.Gly25Asp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005095969]|not specified [RCV002271865] Chr16:88648099 [GRCh38]
Chr16:88714507 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88697181-88809407)x1 copy number loss not provided [RCV002473721] Chr16:88697181..88809407 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_000101.4(CYBA):c.171G>A (p.Gly57=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003011819] Chr16:88647133 [GRCh38]
Chr16:88713541 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.2T>C (p.Met1Thr) single nucleotide variant not specified [RCV002308641] Chr16:88651012 [GRCh38]
Chr16:88717420 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.68_76del (p.Thr23_Gly25del) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002754998] Chr16:88648097..88648105 [GRCh38]
Chr16:88714505..88714513 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.370-17C>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002880663] Chr16:88643588 [GRCh38]
Chr16:88709996 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.179A>T (p.Lys60Met) single nucleotide variant Inborn genetic diseases [RCV002839898] Chr16:88647125 [GRCh38]
Chr16:88713533 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.287+7C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002837898] Chr16:88646748 [GRCh38]
Chr16:88713156 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.411G>A (p.Lys137=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003013629] Chr16:88643530 [GRCh38]
Chr16:88709938 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.258T>C (p.Asn86=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002815653] Chr16:88646784 [GRCh38]
Chr16:88713192 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.45G>A (p.Leu15=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002750883] Chr16:88650969 [GRCh38]
Chr16:88717377 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.283C>G (p.Leu95Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002976057] Chr16:88646759 [GRCh38]
Chr16:88713167 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.180G>A (p.Lys60=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002825617] Chr16:88647124 [GRCh38]
Chr16:88713532 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.379C>T (p.Arg127Cys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002593257] Chr16:88643562 [GRCh38]
Chr16:88709970 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.179A>G (p.Lys60Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003080872] Chr16:88647125 [GRCh38]
Chr16:88713533 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.504C>T (p.Ser168=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003052937] Chr16:88643437 [GRCh38]
Chr16:88709845 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.147G>A (p.Val49=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003018089] Chr16:88647157 [GRCh38]
Chr16:88713565 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.574G>T (p.Asp192Tyr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003018804] Chr16:88643367 [GRCh38]
Chr16:88709775 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.539dup (p.Gly182fs) duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002800036] Chr16:88643401..88643402 [GRCh38]
Chr16:88709809..88709810 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.251C>A (p.Thr84Asn) single nucleotide variant Inborn genetic diseases [RCV002822329] Chr16:88646791 [GRCh38]
Chr16:88713199 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.467dup (p.Pro157fs) duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002736564] Chr16:88643473..88643474 [GRCh38]
Chr16:88709881..88709882 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000101.4(CYBA):c.288-1G>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003021493] Chr16:88646198 [GRCh38]
Chr16:88712606 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NM_000101.4(CYBA):c.355G>A (p.Gly119Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003078566] Chr16:88646130 [GRCh38]
Chr16:88712538 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.120C>T (p.Ala40=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002805675] Chr16:88648053 [GRCh38]
Chr16:88714461 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.398C>G (p.Pro133Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002701375] Chr16:88643543 [GRCh38]
Chr16:88709951 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.287+16G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003083362] Chr16:88646739 [GRCh38]
Chr16:88713147 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.235C>T (p.Leu79=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003082960] Chr16:88646807 [GRCh38]
Chr16:88713215 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.108G>A (p.Trp36Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002876405] Chr16:88648065 [GRCh38]
Chr16:88714473 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.204-19G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002624861] Chr16:88646857 [GRCh38]
Chr16:88713265 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.424C>A (p.Pro142Thr) single nucleotide variant Inborn genetic diseases [RCV002873375] Chr16:88643517 [GRCh38]
Chr16:88709925 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.363C>T (p.Tyr121=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002872179] Chr16:88646122 [GRCh38]
Chr16:88712530 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.425C>G (p.Pro142Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002574588] Chr16:88643516 [GRCh38]
Chr16:88709924 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.370-8C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002575915] Chr16:88643579 [GRCh38]
Chr16:88709987 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.116G>C (p.Gly39Ala) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003058683] Chr16:88648057 [GRCh38]
Chr16:88714465 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.241G>A (p.Gly81Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003090949]|Inborn genetic diseases [RCV004978564] Chr16:88646801 [GRCh38]
Chr16:88713209 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.225C>A (p.Ala75=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003030142] Chr16:88646817 [GRCh38]
Chr16:88713225 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.287+1G>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003064363] Chr16:88646754 [GRCh38]
Chr16:88713162 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.267del (p.Arg90fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002966868] Chr16:88646775 [GRCh38]
Chr16:88713183 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.279G>T (p.Leu93=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003029171] Chr16:88646763 [GRCh38]
Chr16:88713171 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.184G>A (p.Gly62Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002598749] Chr16:88647120 [GRCh38]
Chr16:88713528 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.203+18C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003062918] Chr16:88647083 [GRCh38]
Chr16:88713491 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.41C>T (p.Ala14Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603144]|Inborn genetic diseases [RCV002960296] Chr16:88650973 [GRCh38]
Chr16:88717381 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.204-7C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002630439] Chr16:88646845 [GRCh38]
Chr16:88713253 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.303C>G (p.Ala101=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002988593] Chr16:88646182 [GRCh38]
Chr16:88712590 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.295_301del (p.Val99fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003064361] Chr16:88646184..88646190 [GRCh38]
Chr16:88712592..88712598 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic
NM_000101.4(CYBA):c.59-17C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002898878] Chr16:88648131 [GRCh38]
Chr16:88714539 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.566C>T (p.Pro189Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003090226]|Inborn genetic diseases [RCV003349024]|not provided [RCV003235769] Chr16:88643375 [GRCh38]
Chr16:88709783 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.288G>T (p.Leu96=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003064362] Chr16:88646197 [GRCh38]
Chr16:88712605 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.136G>A (p.Gly46Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003064364] Chr16:88647168 [GRCh38]
Chr16:88713576 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.34G>A (p.Glu12Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003091879] Chr16:88650980 [GRCh38]
Chr16:88717388 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.482_483insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG (p.Glu162fs) insertion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003045419] Chr16:88643458..88643459 [GRCh38]
Chr16:88709866..88709867 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.365T>C (p.Leu122Pro) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003031358] Chr16:88646120 [GRCh38]
Chr16:88712528 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.370-11G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003091192] Chr16:88643582 [GRCh38]
Chr16:88709990 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.204-17C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002629684] Chr16:88646855 [GRCh38]
Chr16:88713263 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.490C>T (p.Arg164Cys) single nucleotide variant Inborn genetic diseases [RCV002679689] Chr16:88643451 [GRCh38]
Chr16:88709859 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.229G>A (p.Val77Met) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003067067] Chr16:88646813 [GRCh38]
Chr16:88713221 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.288-7C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002636034] Chr16:88646204 [GRCh38]
Chr16:88712612 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_000101.4(CYBA):c.488C>A (p.Ala163Asp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003071599]|Inborn genetic diseases [RCV004071626] Chr16:88643453 [GRCh38]
Chr16:88709861 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.287+13C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003069463] Chr16:88646742 [GRCh38]
Chr16:88713150 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.350C>A (p.Ala117Glu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002610137] Chr16:88646135 [GRCh38]
Chr16:88712543 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.254G>C (p.Arg85Thr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003051181] Chr16:88646788 [GRCh38]
Chr16:88713196 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.479C>T (p.Pro160Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV002612128] Chr16:88643462 [GRCh38]
Chr16:88709870 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.212A>G (p.Lys71Arg) single nucleotide variant Inborn genetic diseases [RCV003266063] Chr16:88646830 [GRCh38]
Chr16:88713238 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.129-18T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604150] Chr16:88647193 [GRCh38]
Chr16:88713601 [GRCh37]
Chr16:16q24.2		 likely benign
GRCh37/hg19 16q24.2-24.3(chr16:88647290-88859285)x1 copy number loss not provided [RCV003483306] Chr16:88647290..88859285 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_000101.4(CYBA):c.159G>A (p.Glu53=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003875764] Chr16:88647145 [GRCh38]
Chr16:88713553 [GRCh37]
Chr16:16q24.2		 likely benign
GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1 copy number loss not provided [RCV003483304] Chr16:88067200..89460290 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_000101.4(CYBA):c.288-11C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003880385] Chr16:88646208 [GRCh38]
Chr16:88712616 [GRCh37]
Chr16:16q24.2		 likely benign
Single allele deletion KBG syndrome [RCV003388955] Chr16:88621654..89376245 [GRCh38]
Chr16:16q24.2-24.3		 pathogenic
NM_000101.4(CYBA):c.370-720C>G single nucleotide variant not provided [RCV003426893] Chr16:88644291 [GRCh38]
Chr16:88710699 [GRCh37]
Chr16:16q24.2		 likely benign
Single allele deletion KBG syndrome [RCV003388954] Chr16:88197484..89331695 [GRCh38]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion KBG syndrome [RCV003388953] Chr16:87169884..89487487 [GRCh38]
Chr16:16q24.2-24.3		 pathogenic
NM_000101.4(CYBA):c.192C>T (p.Thr64=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003602661] Chr16:88647112 [GRCh38]
Chr16:88713520 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.59-13C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003602842] Chr16:88648127 [GRCh38]
Chr16:88714535 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.128+17G>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003602818] Chr16:88648028 [GRCh38]
Chr16:88714436 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.138C>A (p.Gly46=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604554] Chr16:88647166 [GRCh38]
Chr16:88713574 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.58+19C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603005] Chr16:88650937 [GRCh38]
Chr16:88717345 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.369+12C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603213] Chr16:88646104 [GRCh38]
Chr16:88712512 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.370-18C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603224] Chr16:88643589 [GRCh38]
Chr16:88709997 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.58+20G>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604789] Chr16:88650936 [GRCh38]
Chr16:88717344 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.204-17C>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604995] Chr16:88646855 [GRCh38]
Chr16:88713263 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.288-17C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003602743] Chr16:88646214 [GRCh38]
Chr16:88712622 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.58+20G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603040] Chr16:88650936 [GRCh38]
Chr16:88717344 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.203+16C>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603766] Chr16:88647085 [GRCh38]
Chr16:88713493 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.288-1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003602901] Chr16:88646198 [GRCh38]
Chr16:88712606 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NM_000101.4(CYBA):c.287+18A>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003602946] Chr16:88646737 [GRCh38]
Chr16:88713145 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.385G>T (p.Glu129Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603018] Chr16:88643556 [GRCh38]
Chr16:88709964 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NM_000101.4(CYBA):c.42G>A (p.Ala14=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603179] Chr16:88650972 [GRCh38]
Chr16:88717380 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.128+17G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603176] Chr16:88648028 [GRCh38]
Chr16:88714436 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.288-12G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603879] Chr16:88646209 [GRCh38]
Chr16:88712617 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.261C>T (p.Tyr87=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604866] Chr16:88646781 [GRCh38]
Chr16:88713189 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.370-19A>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604912] Chr16:88643590 [GRCh38]
Chr16:88709998 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.287+19C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604340] Chr16:88646736 [GRCh38]
Chr16:88713144 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.128+12C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003878035] Chr16:88648033 [GRCh38]
Chr16:88714441 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.369+1058T>C single nucleotide variant not specified [RCV003489083] Chr16:88645058 [GRCh38]
Chr16:88711466 [GRCh37]
Chr16:16q24.2		 benign
NM_000101.4(CYBA):c.369+15C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604544] Chr16:88646101 [GRCh38]
Chr16:88712509 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.129-20C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603739] Chr16:88647195 [GRCh38]
Chr16:88713603 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.204-20C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003824971] Chr16:88646858 [GRCh38]
Chr16:88713266 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.558C>T (p.Asn186=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003877042] Chr16:88643383 [GRCh38]
Chr16:88709791 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.203+7C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604224] Chr16:88647094 [GRCh38]
Chr16:88713502 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.287+14C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003876399] Chr16:88646741 [GRCh38]
Chr16:88713149 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.246_273del (p.Phe83fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603771] Chr16:88646769..88646796 [GRCh38]
Chr16:88713177..88713204 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.521delinsCGGC (p.Val174delinsAlaAla) indel not specified [RCV003489767] Chr16:88643420 [GRCh38]
Chr16:88709828 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_000101.4(CYBA):c.73G>C (p.Gly25Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604646] Chr16:88648100 [GRCh38]
Chr16:88714508 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.402C>A (p.Ile134=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604672] Chr16:88643539 [GRCh38]
Chr16:88709947 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.18G>A (p.Trp6Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604268] Chr16:88650996 [GRCh38]
Chr16:88717404 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.324C>T (p.Ile108=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604790] Chr16:88646161 [GRCh38]
Chr16:88712569 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.58+15G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603589] Chr16:88650941 [GRCh38]
Chr16:88717349 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.570G>T (p.Val190=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003604389] Chr16:88643371 [GRCh38]
Chr16:88709779 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.204-18C>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603702] Chr16:88646856 [GRCh38]
Chr16:88713264 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.287+20C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003497456] Chr16:88646735 [GRCh38]
Chr16:88713143 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.213G>A (p.Lys71=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003497482] Chr16:88646829 [GRCh38]
Chr16:88713237 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.203+14T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003497595] Chr16:88647087 [GRCh38]
Chr16:88713495 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.58+11G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003498289] Chr16:88650945 [GRCh38]
Chr16:88717353 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.109dup (p.Tyr37fs) duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003498480] Chr16:88648063..88648064 [GRCh38]
Chr16:88714471..88714472 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.84C>G (p.Ala28=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003498530] Chr16:88648089 [GRCh38]
Chr16:88714497 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.59-14A>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003497478] Chr16:88648128 [GRCh38]
Chr16:88714536 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.174G>A (p.Lys58=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003499005] Chr16:88647130 [GRCh38]
Chr16:88713538 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.369+18A>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003499445] Chr16:88646098 [GRCh38]
Chr16:88712506 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.370-13C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003498842] Chr16:88643584 [GRCh38]
Chr16:88709992 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.58+10dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003499837] Chr16:88650945..88650946 [GRCh38]
Chr16:88717353..88717354 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.492C>T (p.Arg164=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003840438] Chr16:88643449 [GRCh38]
Chr16:88709857 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.369+19G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603289] Chr16:88646097 [GRCh38]
Chr16:88712505 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.58+2T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003498167] Chr16:88650954 [GRCh38]
Chr16:88717362 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NM_000101.4(CYBA):c.287+20C>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003498191] Chr16:88646735 [GRCh38]
Chr16:88713143 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.552G>A (p.Gln184=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003498394] Chr16:88643389 [GRCh38]
Chr16:88709797 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.582C>T (p.Val194=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003835073] Chr16:88643359 [GRCh38]
Chr16:88709767 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.288-15C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603499] Chr16:88646212 [GRCh38]
Chr16:88712620 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.107G>A (p.Trp36Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003499993] Chr16:88648066 [GRCh38]
Chr16:88714474 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.287+14C>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003839336] Chr16:88646741 [GRCh38]
Chr16:88713149 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.543A>C (p.Gly181=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003499236] Chr16:88643398 [GRCh38]
Chr16:88709806 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.204-10C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003499287] Chr16:88646848 [GRCh38]
Chr16:88713256 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.59-19G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003839298] Chr16:88648133 [GRCh38]
Chr16:88714541 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.287+11G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003497383] Chr16:88646744 [GRCh38]
Chr16:88713152 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.353G>A (p.Ser118Asn) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003837927] Chr16:88646132 [GRCh38]
Chr16:88712540 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.59-13C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003603488] Chr16:88648127 [GRCh38]
Chr16:88714535 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.369+7G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003498497] Chr16:88646109 [GRCh38]
Chr16:88712517 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.252C>T (p.Thr84=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003499919] Chr16:88646790 [GRCh38]
Chr16:88713198 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.222C>A (p.Thr74=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003499026] Chr16:88646820 [GRCh38]
Chr16:88713228 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.171G>C (p.Gly57=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003499682] Chr16:88647133 [GRCh38]
Chr16:88713541 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.288-12G>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003853858] Chr16:88646209 [GRCh38]
Chr16:88712617 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.196G>T (p.Glu66Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003842991] Chr16:88647108 [GRCh38]
Chr16:88713516 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.203+17T>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003858858] Chr16:88647084 [GRCh38]
Chr16:88713492 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.467del (p.Pro156fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003821216] Chr16:88643474 [GRCh38]
Chr16:88709882 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.370-16del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003844730] Chr16:88643587 [GRCh38]
Chr16:88709995 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.103C>T (p.Gln35Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003867025] Chr16:88648070 [GRCh38]
Chr16:88714478 [GRCh37]
Chr16:16q24.2		 pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88153961-89104917)x1 copy number loss not specified [RCV003987173] Chr16:88153961..89104917 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88445361-88818583)x3 copy number gain not specified [RCV003987174] Chr16:88445361..88818583 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1 copy number loss not provided [RCV003885482] Chr16:87866576..89424113 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_000101.4(CYBA):c.288-19C>G single nucleotide variant CYBA-related disorder [RCV003962298] Chr16:88646216 [GRCh38]
Chr16:88712624 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.369+1G>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003990745] Chr16:88646115 [GRCh38]
Chr16:88712523 [GRCh37]
Chr16:16q24.2		 pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3 copy number gain not provided [RCV004577473] Chr16:82865402..90163542 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NC_000016.9:g.(?_88709761)_(88717421_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV004582667] Chr16:88709761..88717421 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_88713143)_(88717421_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV004582668] Chr16:88713143..88717421 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_88709946)_(88713408_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV004582669] Chr16:88709946..88713408 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_88717344)_(90106937_?)dup duplication KBG syndrome [RCV004581568] Chr16:88717344..90106937 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_87636753)_(88808850_?)del deletion not provided [RCV004582843] Chr16:87636753..88808850 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NC_000016.9:g.(?_87921735)_(89484776_?)del deletion KBG syndrome [RCV004581567] Chr16:87921735..89484776 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_000101.4(CYBA):c.382G>A (p.Gly128Ser) single nucleotide variant not specified [RCV004691081] Chr16:88643559 [GRCh38]
Chr16:88709967 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.159G>C (p.Glu53Asp) single nucleotide variant not specified [RCV004771416] Chr16:88647145 [GRCh38]
Chr16:88713553 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.371C>G (p.Ala124Gly) single nucleotide variant not specified [RCV004703012] Chr16:88643570 [GRCh38]
Chr16:88709978 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.16T>G (p.Trp6Gly) single nucleotide variant Inborn genetic diseases [RCV004981414] Chr16:88650998 [GRCh38]
Chr16:88717406 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87794842-89460290)x1 copy number loss not provided [RCV004819389] Chr16:87794842..89460290 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_000101.4(CYBA):c.390G>T (p.Gln130His) single nucleotide variant Inborn genetic diseases [RCV004981413] Chr16:88643551 [GRCh38]
Chr16:88709959 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.288-2A>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005196445] Chr16:88646199 [GRCh38]
Chr16:88712607 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.477C>T (p.Pro159=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005170250] Chr16:88643464 [GRCh38]
Chr16:88709872 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.129-17T>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005086121] Chr16:88647192 [GRCh38]
Chr16:88713600 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.370-1G>A single nucleotide variant not specified [RCV005088537] Chr16:88643572 [GRCh38]
Chr16:88709980 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.470C>T (p.Pro157Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005182158] Chr16:88643471 [GRCh38]
Chr16:88709879 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.251C>T (p.Thr84Ile) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005076429] Chr16:88646791 [GRCh38]
Chr16:88713199 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.8A>C (p.Gln3Pro) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005185740] Chr16:88651006 [GRCh38]
Chr16:88717414 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.4_24del (p.Gly2_Met8del) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005177357] Chr16:88650990..88651010 [GRCh38]
Chr16:88717398..88717418 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.59-3C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005081922] Chr16:88648117 [GRCh38]
Chr16:88714525 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.370-13C>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005188657] Chr16:88643584 [GRCh38]
Chr16:88709992 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.486G>A (p.Glu162=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005117574] Chr16:88643455 [GRCh38]
Chr16:88709863 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.433G>T (p.Gly145Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005120720] Chr16:88643508 [GRCh38]
Chr16:88709916 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_000101.4(CYBA):c.58+18A>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005083407] Chr16:88650938 [GRCh38]
Chr16:88717346 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.59-5C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005116212] Chr16:88648119 [GRCh38]
Chr16:88714527 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.428A>G (p.Gln143Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005148124] Chr16:88643513 [GRCh38]
Chr16:88709921 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.129-8G>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005148360] Chr16:88647183 [GRCh38]
Chr16:88713591 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.583G>C (p.Val195Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005153603] Chr16:88643358 [GRCh38]
Chr16:88709766 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.578_*3del (p.Glu193fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005151448] Chr16:88643350..88643363 [GRCh38]
Chr16:88709758..88709771 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.369+15_369+16del microsatellite Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005129257] Chr16:88646100..88646101 [GRCh38]
Chr16:88712508..88712509 [GRCh37]
Chr16:16q24.2		 likely benign
NM_000101.4(CYBA):c.58+6_58+15del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005017849] Chr16:88650941..88650950 [GRCh38]
Chr16:88717349..88717358 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NM_000101.4(CYBA):c.530G>C (p.Gly177Ala) single nucleotide variant Inborn genetic diseases [RCV003361665] Chr16:88643411 [GRCh38]
Chr16:88709819 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_000101.4(CYBA):c.369+2T>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005017847] Chr16:88646114 [GRCh38]
Chr16:88712522 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NM_000101.4(CYBA):c.203+1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV005017848] Chr16:88647100 [GRCh38]
Chr16:88713508 [GRCh37]
Chr16:16q24.2		 likely pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3806
Count of miRNA genes:988
Interacting mature miRNAs:1232
Transcripts:ENST00000261623, ENST00000561972, ENST00000562209, ENST00000563526, ENST00000565588, ENST00000566229, ENST00000566534, ENST00000567174, ENST00000568278, ENST00000569359
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597404514GWAS1500588_Hsunburn QTL GWAS1500588 (human)5e-11sunburn168864442588644426Human
597141964GWAS1238038_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1238038 (human)2e-08diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)168864682888646829Human
597171763GWAS1267837_Hprotein measurement QTL GWAS1267837 (human)4e-17protein measurement168864915288649153Human
597322101GWAS1418175_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1418175 (human)0.000002diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)168864682888646829Human

Markers in Region
G62102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,718,833 - 88,718,947UniSTSGRCh37
Build 361687,246,334 - 87,246,448RGDNCBI36
Celera1673,788,505 - 73,788,619RGD
Cytogenetic Map16q24UniSTS
Cytogenetic Map16q24.3UniSTS
HuRef1674,412,864 - 74,412,978UniSTS
MVD_8513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,718,315 - 88,718,999UniSTSGRCh37
Build 361687,245,816 - 87,246,500RGDNCBI36
Celera1673,787,987 - 73,788,671RGD
HuRef1674,412,346 - 74,413,030UniSTS
SHGC-60150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,710,096 - 88,710,250UniSTSGRCh37
Build 361687,237,597 - 87,237,751RGDNCBI36
Celera1673,779,768 - 73,779,922RGD
Cytogenetic Map16q24UniSTS
HuRef1674,404,127 - 74,404,281UniSTS
TNG Radiation Hybrid Map1640544.0UniSTS
RH68091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,710,073 - 88,710,206UniSTSGRCh37
Build 361687,237,574 - 87,237,707RGDNCBI36
Celera1673,779,745 - 73,779,878RGD
Cytogenetic Map16q24UniSTS
HuRef1674,404,104 - 74,404,237UniSTS
GeneMap99-GB4 RH Map16487.57UniSTS
STS-U49260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,718,751 - 88,718,940UniSTSGRCh37
Build 361687,246,252 - 87,246,441RGDNCBI36
Celera1673,788,423 - 73,788,612RGD
Cytogenetic Map16q24UniSTS
Cytogenetic Map16q24.3UniSTS
HuRef1674,412,782 - 74,412,971UniSTS
GeneMap99-GB4 RH Map16488.47UniSTS
NCBI RH Map16670.3UniSTS
SHGC-60170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,710,242 - 88,710,360UniSTSGRCh37
Build 361687,237,743 - 87,237,861RGDNCBI36
Celera1673,779,914 - 73,780,032RGD
Cytogenetic Map16q24UniSTS
HuRef1674,404,273 - 74,404,391UniSTS
TNG Radiation Hybrid Map1640544.0UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
RH80030  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map12q15-q21UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2p22.2UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map11q22.2-q22.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map2q32.2UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
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Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4959 1726 2348 6 624 1951 465 2266 7303 6470 52 3722 1 850 1743 1615 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC116552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY128666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX109994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ482653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M21186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000261623   ⟹   ENSP00000261623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,643,289 - 88,651,053 (-)Ensembl
Ensembl Acc Id: ENST00000561972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,647,693 - 88,651,054 (-)Ensembl
Ensembl Acc Id: ENST00000562209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,646,141 - 88,651,031 (-)Ensembl
Ensembl Acc Id: ENST00000563526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,645,965 - 88,650,988 (-)Ensembl
Ensembl Acc Id: ENST00000565588   ⟹   ENSP00000455537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,643,514 - 88,651,078 (-)Ensembl
Ensembl Acc Id: ENST00000566229   ⟹   ENSP00000457060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,643,540 - 88,650,314 (-)Ensembl
Ensembl Acc Id: ENST00000566534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,643,514 - 88,651,035 (-)Ensembl
Ensembl Acc Id: ENST00000567174   ⟹   ENSP00000454951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,644,742 - 88,651,041 (-)Ensembl
Ensembl Acc Id: ENST00000568278   ⟹   ENSP00000455506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,646,132 - 88,651,015 (-)Ensembl
Ensembl Acc Id: ENST00000569359   ⟹   ENSP00000456079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,645,087 - 88,651,030 (-)Ensembl
Ensembl Acc Id: ENST00000696156   ⟹   ENSP00000512446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,643,275 - 88,651,081 (-)Ensembl
Ensembl Acc Id: ENST00000696157   ⟹   ENSP00000512447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,643,289 - 88,651,074 (-)Ensembl
Ensembl Acc Id: ENST00000696158   ⟹   ENSP00000512448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,643,289 - 88,651,074 (-)Ensembl
Ensembl Acc Id: ENST00000696159   ⟹   ENSP00000512449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,643,289 - 88,651,081 (-)Ensembl
Ensembl Acc Id: ENST00000696160   ⟹   ENSP00000512450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,643,289 - 88,651,081 (-)Ensembl
Ensembl Acc Id: ENST00000696161   ⟹   ENSP00000512451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,643,290 - 88,651,078 (-)Ensembl
Ensembl Acc Id: ENST00000696162   ⟹   ENSP00000512452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,643,290 - 88,651,081 (-)Ensembl
Ensembl Acc Id: ENST00000696163   ⟹   ENSP00000512453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,643,290 - 88,651,083 (-)Ensembl
RefSeq Acc Id: NM_000101   ⟹   NP_000092
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381688,643,289 - 88,651,053 (-)NCBI
GRCh371688,709,697 - 88,717,492 (-)NCBI
Build 361687,237,198 - 87,244,958 (-)NCBI Archive
HuRef1674,403,728 - 74,411,523 (-)NCBI
CHM1_11690,120,999 - 90,128,842 (-)NCBI
T2T-CHM13v2.01694,711,169 - 94,718,983 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522905   ⟹   XP_011521207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381688,643,289 - 88,651,053 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054379693   ⟹   XP_054235668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01694,711,169 - 94,718,983 (-)NCBI
RefSeq Acc Id: NP_000092   ⟸   NM_000101
- UniProtKB: Q14090 (UniProtKB/Swiss-Prot),   Q9BR72 (UniProtKB/Swiss-Prot),   P13498 (UniProtKB/Swiss-Prot),   A0A8Q3WL20 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521207   ⟸   XM_011522905
- Peptide Label: isoform X1
- UniProtKB: H3BNP7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000261623   ⟸   ENST00000261623
Ensembl Acc Id: ENSP00000455537   ⟸   ENST00000565588
Ensembl Acc Id: ENSP00000457060   ⟸   ENST00000566229
Ensembl Acc Id: ENSP00000454951   ⟸   ENST00000567174
Ensembl Acc Id: ENSP00000455506   ⟸   ENST00000568278
Ensembl Acc Id: ENSP00000456079   ⟸   ENST00000569359
Ensembl Acc Id: ENSP00000512451   ⟸   ENST00000696161
Ensembl Acc Id: ENSP00000512446   ⟸   ENST00000696156
Ensembl Acc Id: ENSP00000512450   ⟸   ENST00000696160
Ensembl Acc Id: ENSP00000512447   ⟸   ENST00000696157
Ensembl Acc Id: ENSP00000512453   ⟸   ENST00000696163
Ensembl Acc Id: ENSP00000512449   ⟸   ENST00000696159
Ensembl Acc Id: ENSP00000512452   ⟸   ENST00000696162
Ensembl Acc Id: ENSP00000512448   ⟸   ENST00000696158
RefSeq Acc Id: XP_054235668   ⟸   XM_054379693
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P13498-F1-model_v2 AlphaFold P13498 1-195 view protein structure

Promoters
RGD ID:6792836
Promoter ID:HG_KWN:24460
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC002FLC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,237,676 - 87,240,477 (-)MPROMDB
RGD ID:6792840
Promoter ID:HG_KWN:24461
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000101,   UC002FLD.1,   UC002FLE.1,   UC010CHX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,243,916 - 87,245,612 (-)MPROMDB
RGD ID:6853208
Promoter ID:EP74425
Type:multiple initiation site
Name:HS_CYBA
Description:Cytochrome b-245, alpha polypeptide.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,244,949 - 87,245,009EPD
RGD ID:7233113
Promoter ID:EPDNEW_H22301
Type:initiation region
Name:CYBA_1
Description:cytochrome b-245 alpha chain
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
GRCh381688,651,053 - 88,651,113EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2577 AgrOrtholog
COSMIC CYBA COSMIC
Ensembl Genes ENSG00000051523 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261623 ENTREZGENE
  ENST00000261623.8 UniProtKB/Swiss-Prot
  ENST00000565588.6 UniProtKB/TrEMBL
  ENST00000566229.1 UniProtKB/TrEMBL
  ENST00000567174 ENTREZGENE
  ENST00000567174.5 UniProtKB/TrEMBL
  ENST00000568278.1 UniProtKB/TrEMBL
  ENST00000569359.5 UniProtKB/TrEMBL
  ENST00000696156.1 UniProtKB/TrEMBL
  ENST00000696157.1 UniProtKB/TrEMBL
  ENST00000696158.1 UniProtKB/TrEMBL
  ENST00000696159.1 UniProtKB/TrEMBL
  ENST00000696160.1 UniProtKB/TrEMBL
  ENST00000696161.1 UniProtKB/TrEMBL
  ENST00000696162.1 UniProtKB/TrEMBL
  ENST00000696163.1 UniProtKB/TrEMBL
GTEx ENSG00000051523 GTEx
HGNC ID HGNC:2577 ENTREZGENE
Human Proteome Map CYBA Human Proteome Map
InterPro Cyt_b558_asu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1535 ENTREZGENE
OMIM 608508 OMIM
PANTHER CYTOCHROME B-245 LIGHT CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cytochrom_B558a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27075 PharmGKB
PIRSF Cytochr_b558a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8Q3SIH4_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIJ9_HUMAN UniProtKB/TrEMBL
  A0A8Q3SJ80_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL14_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL20 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WL26_HUMAN UniProtKB/TrEMBL
  A0A8Q3WL27_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLM1_HUMAN UniProtKB/TrEMBL
  B4DT46_HUMAN UniProtKB/TrEMBL
  CY24A_HUMAN UniProtKB/Swiss-Prot
  H3BNP7 ENTREZGENE, UniProtKB/TrEMBL
  H3BPX1_HUMAN UniProtKB/TrEMBL
  H3BPZ7_HUMAN UniProtKB/TrEMBL
  H3BR52_HUMAN UniProtKB/TrEMBL
  H3BT77_HUMAN UniProtKB/TrEMBL
  P13498 ENTREZGENE
  Q14090 ENTREZGENE
  Q86SL0_HUMAN UniProtKB/TrEMBL
  Q9BR72 ENTREZGENE
UniProt Secondary Q14090 UniProtKB/Swiss-Prot
  Q9BR72 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 CYBA  cytochrome b-245 alpha chain  CYBA  cytochrome b-245, alpha polypeptide  Symbol and/or name change 5135510 APPROVED