CFB (complement factor B) - Rat Genome Database

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Gene: CFB (complement factor B) Homo sapiens
Analyze
Symbol: CFB
Name: complement factor B
RGD ID: 1350557
HGNC Page HGNC:1037
Description: Predicted to enable complement binding activity and serine-type endopeptidase activity. Predicted to be involved in complement activation and response to bacterium. Predicted to act upstream of or within complement activation, alternative pathway. Located in plasma membrane. Implicated in several diseases, including atypical hemolytic-uremic syndrome; autoimmune disease (multiple); eye disease (multiple); glomerulonephritis (multiple); and sickle cell anemia. Biomarker of several diseases, including autoimmune disease (multiple); boutonneuse fever; end stage renal disease; erythema nodosum; and glomerulonephritis (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AHUS4; ARMD14; B-factor, properdin; BF; BFD; C3 proaccelerator; C3 proactivator; C3/C5 convertase; CFAB; CFBD; FB; FBI12; FLJ54899; GBG; glycine-rich beta glycoprotein; glycine-rich beta-glycoprotein; H2-Bf; PBF2; properdin factor B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38631,946,095 - 31,952,084 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl631,945,650 - 31,952,086 (+)EnsemblGRCh38hg38GRCh38
GRCh37631,913,872 - 31,919,861 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36632,021,752 - 32,027,839 (+)NCBINCBI36Build 36hg18NCBI36
Build 34632,021,760 - 32,027,839NCBI
Celera633,513,483 - 33,519,623 (+)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef631,700,690 - 31,706,830 (+)NCBIHuRef
CHM1_1631,915,802 - 31,921,942 (+)NCBICHM1_1
T2T-CHM13v2.0631,799,300 - 31,805,289 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute lymphoblastic leukemia  (IAGP)
age related macular degeneration 14  (IAGP)
age related macular degeneration 7  (IAGP)
anterior uveitis  (IAGP,IEP)
anti-basement membrane glomerulonephritis  (ISO)
atypical hemolytic-uremic syndrome  (EXP,IAGP)
autosomal dominant polycystic kidney disease  (IEP)
Behcet's disease  (IEP)
beta thalassemia  (IEP)
boutonneuse fever  (IEP)
Brain Injuries  (EXP)
breast cancer  (IEP)
bullous pemphigoid  (ISO)
Choroidal Neovascularization  (ISO)
complement component 2 deficiency  (IAGP)
Complement Factor B Deficiency  (IAGP)
conjunctivitis  (IEP)
diabetic retinopathy  (IAGP)
end stage renal disease  (IEP,ISO)
erythema nodosum  (IEP)
Experimental Autoimmune Myasthenia Gravis  (ISO)
Experimental Autoimmune Uveoretinitis  (ISO)
factor VIII deficiency  (IEP)
focal segmental glomerulosclerosis  (ISO)
IgA glomerulonephritis  (IAGP,IEP)
Kidney Reperfusion Injury  (ISO)
lepromatous leprosy  (IEP)
lupus nephritis  (IEP,ISO)
macular degeneration  (EXP,IAGP)
membranoproliferative glomerulonephritis  (IDA,ISO)
membranous glomerulonephritis  (IAGP)
Meningococcal Infections  (IEP)
Multifocal Choroiditis  (IAGP)
myasthenia gravis  (EXP)
neutropenia  (IAGP)
otitis media  (ISO)
paracoccidioidomycosis  (IEP)
polycystic kidney disease  (ISO)
Polypoidal Choroidal Vasculopathy  (IAGP)
psoriasis  (IAGP)
pyelonephritis  (IEP)
Refractory Anemia with Excess of Blasts  (IEP)
retinal degeneration  (ISO)
Sepsis  (ISO)
sickle cell anemia  (IDA,IEP)
sinusitis  (IEP)
systemic lupus erythematosus  (EXP)
systemic scleroderma  (IEP)
type 1 diabetes mellitus  (IAGP,IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
antimony(0)  (EXP)
antirheumatic drug  (EXP)
aripiprazole  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
azoxystrobin  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (EXP,ISO)
chlordecone  (ISO)
chlorpyrifos  (ISO)
chromium atom  (EXP)
chrysene  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
danazol  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dichloroacetic acid  (ISO)
diethylstilbestrol  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
disulfiram  (EXP)
diuron  (ISO)
doxorubicin  (EXP,ISO)
fenvalerate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
furan  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
imidacloprid  (ISO)
indometacin  (EXP)
L-ascorbic acid  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (ISO)
magnesium atom  (ISO)
mercury atom  (EXP)
mercury dichloride  (ISO)
mercury(0)  (EXP)
metam  (ISO)
mifepristone  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naphthalene  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
O-methyleugenol  (EXP)
olanzapine  (EXP)
ozone  (EXP)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
parathion  (EXP)
parthenolide  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
progesterone  (ISO)
propanal  (EXP)
protein kinase inhibitor  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thiabendazole  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
Triptolide  (ISO)
troglitazone  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Complement haemolytic activity, circulating immune complexes and the morbidity of sickle cell anaemia. Anyaegbu CC, etal., APMIS. 1999 Jul;107(7):699-702.
2. Complement proteins and C3 anaphylatoxin in the tears of patients with conjunctivitis. Ballow M, etal., J Allergy Clin Immunol. 1985 Sep;76(3):473-6.
3. Complement abnormalities during an epidemic of group B meningococcal infection in children. Beatty DW, etal., Clin Exp Immunol. 1986 Jun;64(3):465-70.
4. Complement activation via alternative pathway is critical in the development of laser-induced choroidal neovascularization: role of factor B and factor H. Bora NS, etal., J Immunol. 2006 Aug 1;177(3):1872-8.
5. Properdin factor B and acute lymphocytic leukemia (ALL). Budowle B, etal., Cancer. 1982 Dec 1;50(11):2369-71.
6. Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population. Buentello-Volante B, etal., Mol Vis. 2012;18:2518-25. Epub 2012 Oct 11.
7. Inhibition of the alternative pathway of complement activation reduces inflammation in experimental autoimmune uveoretinitis. Chen M, etal., Eur J Immunol. 2010 Oct;40(10):2870-81. doi: 10.1002/eji.201040323.
8. Complement deposition and microglial activation in the outer retina in light-induced retinopathy: inhibition by a 5-HT1A agonist. Collier RJ, etal., Invest Ophthalmol Vis Sci. 2011 Oct 11;52(11):8108-16. doi: 10.1167/iovs.10-6418.
9. Classical and alternative complement pathway activation in paracoccidioidomycosis. de Messias IT and Mohren D, J Investig Allergol Clin Immunol. 1994 Mar-Apr;4(2):91-5.
10. HLA-linked complement polymorphisms (C2, BF) in psoriasis. Dewald G, etal., Arch Dermatol Res. 1983;275(5):301-4.
11. Aberrant expression of acute-phase reactant proteins in sera and breast lesions of patients with malignant and benign breast tumors. Doustjalali SR, etal., Electrophoresis. 2004 Jul;25(14):2392-401.
12. Analysis of major alleles associated with age-related macular degeneration in patients with multifocal choroiditis: strong association with complement factor H. Ferrara DC, etal., Arch Ophthalmol. 2008 Nov;126(11):1562-6. doi: 10.1001/archopht.126.11.1562.
13. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
14. Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Goicoechea de Jorge E, etal., Proc Natl Acad Sci U S A. 2007 Jan 2;104(1):240-5. Epub 2006 Dec 20.
15. The complement system in Mediterranean spotted fever. Herrero-Herrero JI, etal., J Infect Dis. 1988 May;157(5):1093-5.
16. The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration. Kaur I, etal., Invest Ophthalmol Vis Sci. 2010 Jan;51(1):59-63. doi: 10.1167/iovs.09-4135. Epub 2009 Aug 20.
17. Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population. Kim SJ, etal., Exp Eye Res. 2012 Mar;96(1):42-7. doi: 10.1016/j.exer.2012.01.005. Epub 2012 Jan 18.
18. Allotyping human complement factor B in Asian Indian type 1 diabetic patients. Kumar N, etal., Tissue Antigens. 2008 Dec;72(6):517-24. Epub 2008 Sep 29.
19. Acute phase proteins, C9, factor B, and lysozyme in recurrent oral ulceration and Behcet's syndrome. Lehner T and Adinolfi M, J Clin Pathol. 1980 Mar;33(3):269-75.
20. The alternative pathway of complement is activated in the glomeruli and tubulointerstitium of mice with adriamycin nephropathy. Lenderink AM, etal., Am J Physiol Renal Physiol. 2007 Aug;293(2):F555-64. Epub 2007 May 23.
21. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Maga TK, etal., Hum Mutat. 2010 Jun;31(6):E1445-60. doi: 10.1002/humu.21256.
22. Inhibition of complement alternative pathway suppresses experimental autoimmune anterior uveitis by modulating T cell responses. Manickam B, etal., J Biol Chem. 2011 Mar 11;286(10):8472-80. doi: 10.1074/jbc.M110.197616. Epub 2011 Jan 7.
23. Activated complement in inflamed aqueous humor. Mondino BJ, etal., Invest Ophthalmol Vis Sci. 1984 Jul;25(7):871-3.
24. Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population. Nakata I, etal., Invest Ophthalmol Vis Sci. 2012 Feb 16;53(2):794-8. doi: 10.1167/iovs.11-8468.
25. Role of different pathways of the complement cascade in experimental bullous pemphigoid. Nelson KC, etal., J Clin Invest. 2006 Nov;116(11):2892-900. Epub 2006 Oct 5.
26. Factor B subtypes in Japanese patients with IgA nephropathy and with idiopathic membranous nephropathy. Nishimukai H, etal., Exp Clin Immunogenet. 1988;5(4):196-202.
27. Immunoglobulin classes, complement factors and circulating immune complexes in chronic sinusitis patients. Ogunleye AO and Arinola OG, Afr J Med Med Sci. 2001 Dec;30(4):309-12.
28. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
29. Hypercomplementemia in adult patients with IgA nephropathy. Onda K, etal., J Clin Lab Anal. 2007;21(2):77-84.
30. Elevated plasma levels of the immunosuppressive complement fragment Ba in renal failure. Oppermann M, etal., Kidney Int. 1991 Nov;40(5):939-47.
31. C3, C4, factor B and HLA-DR alpha mRNA expression in renal biopsy specimens from patients with IgA nephropathy. Oren R, etal., Immunology. 1995 Dec;86(4):575-83.
32. Local extrahepatic expression of complement genes C3, factor B, C2, and C4 is increased in murine lupus nephritis. Passwell J, etal., J Clin Invest. 1988 Nov;82(5):1676-84.
33. Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population. Pei XT, etal., Curr Eye Res. 2009 Aug;34(8):615-22.
34. Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H. Pickering MC, etal., Nat Genet 2002 Aug;31(4):424-8.
35. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
36. Genetic polymorphism of C3 and Bf in IgA nephropathy. Rambausek M, etal., Nephrol Dial Transplant. 1987;2(4):208-11.
37. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
38. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
39. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
40. Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD). Richardson AJ, etal., Invest Ophthalmol Vis Sci. 2009 Feb;50(2):540-3. doi: 10.1167/iovs.08-2423. Epub 2008 Sep 20.
41. Breakdown product of factor B as an index of complement activation in lepromatous leprosy and its relation with bacillary load. Saha K, etal., Scand J Immunol. 1983 Jan;17(1):37-43.
42. [Immunological study in sickle cell disease patients: importance of the complement system]. Sassi F, etal., Tunis Med. 2003 Mar;81(3):195-9.
43. Significance of glomerular activation of the alternative pathway and lectin pathway in lupus nephritis. Sato N, etal., Lupus. 2011 Nov;20(13):1378-86. doi: 10.1177/0961203311415561. Epub 2011 Sep 5.
44. Comprehensive evaluation of complement components in the course of type I (Lepra) and type II (ENL) reactions. Sehgal VN, etal., Int J Dermatol. 1989 Jan-Feb;28(1):32-5.
45. Activation of the complement system in systemic sclerosis. Relationship to clinical severity. Senaldi G, etal., Arthritis Rheum. 1989 Oct;32(10):1262-7.
46. Elevated IgG and decreased complement component C3 and factor B in B-thalassaemia major. Sinniah D and Yadav M, Acta Paediatr Scand. 1981 Jul;70(4):547-50.
47. Fragment Bb: evidence for activation of the alternative pathway of the complement system in pregnant women with acute pyelonephritis. Soto E, etal., J Matern Fetal Neonatal Med. 2010 Oct;23(10):1085-90. doi: 10.3109/14767051003649870.
48. C3 R102G polymorphism increases risk of age-related macular degeneration. Spencer KL, etal., Hum Mol Genet. 2008 Jun 15;17(12):1821-4. doi: 10.1093/hmg/ddn075. Epub 2008 Mar 6.
49. Autoantibody to complement neoantigens in membranoproliferative glomerulonephritis. Strife CF, etal., J Pediatr. 1990 May;116(5):S98-102.
50. Excessive activation of the alternative complement pathway in autosomal dominant polycystic kidney disease. Su Z, etal., J Intern Med. 2014 Feb 4. doi: 10.1111/joim.12214.
51. A novel antibody against human factor B that blocks formation of the C3bB proconvertase and inhibits complement activation in disease models. Subias M, etal., J Immunol. 2014 Dec 1;193(11):5567-75. doi: 10.4049/jimmunol.1402013. Epub 2014 Oct 29.
52. Complement activation in type 1 human diabetes. Sundsmo JS, etal., Clin Immunol Immunopathol. 1985 May;35(2):211-25.
53. Complement alternative pathway activation in the autologous phase of nephrotoxic serum nephritis. Thurman JM, etal., Am J Physiol Renal Physiol. 2012 Jun 15;302(12):F1529-36. doi: 10.1152/ajprenal.00422.2011. Epub 2012 Apr 4.
54. Treatment with an inhibitory monoclonal antibody to mouse factor B protects mice from induction of apoptosis and renal ischemia/reperfusion injury. Thurman JM, etal., J Am Soc Nephrol. 2006 Mar;17(3):707-15. Epub 2006 Feb 8.
55. Lack of a functional alternative complement pathway ameliorates ischemic acute renal failure in mice. Thurman JM, etal., J Immunol. 2003 Feb 1;170(3):1517-23.
56. Enhanced susceptibility to acute pneumococcal otitis media in mice deficient in complement C1qa, factor B, and factor B/C2. Tong HH, etal., Infect Immun. 2010 Mar;78(3):976-83. doi: 10.1128/IAI.01012-09. Epub 2010 Jan 11.
57. Circulating immune complexes and complement levels in hemophilic children. Verroust F, etal., J Clin Lab Immunol. 1981 Sep;6(2):127-30.
58. [Changes of the complement system in myelodysplastic syndromes]. Villaescusa Blanco R, etal., Sangre (Barc). 1998 Jun;43(3):210-2.
59. Association of CFH and CFB gene polymorphisms with retinopathy in type 2 diabetic patients. Wang J, etal., Mediators Inflamm. 2013;2013:748435. doi: 10.1155/2013/748435. Epub 2013 Jun 24.
60. Modulation of renal disease in MRL/lpr mice genetically deficient in the alternative complement pathway factor B. Watanabe H, etal., J Immunol. 2000 Jan 15;164(2):786-94.
61. Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population. Wu L, etal., Invest Ophthalmol Vis Sci. 2013 Jan 7;54(1):170-4. doi: 10.1167/iovs.12-10453.
62. Bf and C4 phenotypes in patients with psoriasis. Wyatt RJ, etal., Acta Derm Venereol Suppl (Stockh). 1989;146:211-3.
63. Association of C2 and CFB polymorphisms with anterior uveitis. Yang MM, etal., Invest Ophthalmol Vis Sci. 2012 Jul 27;53(8):4969-74. doi: 10.1167/iovs.12-9478.
64. Complement factor B is the downstream effector of TLRs and plays an important role in a mouse model of severe sepsis. Zou L, etal., J Immunol. 2013 Dec 1;191(11):5625-35. doi: 10.4049/jimmunol.1301903. Epub 2013 Oct 23.
Additional References at PubMed
PMID:162484   PMID:279011   PMID:889587   PMID:1445220   PMID:1545147   PMID:2006911   PMID:2249879   PMID:3052276   PMID:3140783   PMID:3315100   PMID:3643061   PMID:6149579  
PMID:6308626   PMID:6323161   PMID:6342610   PMID:6546754   PMID:6957884   PMID:8125298   PMID:8181962   PMID:8225386   PMID:8247029   PMID:8648130   PMID:10072540   PMID:10072631  
PMID:10610782   PMID:10637221   PMID:10861231   PMID:11341920   PMID:11367526   PMID:11367533   PMID:11803045   PMID:12477932   PMID:14574404   PMID:14656967   PMID:15174051   PMID:15199963  
PMID:15489334   PMID:15582749   PMID:15648851   PMID:16061287   PMID:16301317   PMID:16335952   PMID:16502470   PMID:16518403   PMID:17310251   PMID:17359931   PMID:17395591   PMID:17576744  
PMID:17767156   PMID:17916747   PMID:17921140   PMID:18039777   PMID:18096230   PMID:18493315   PMID:18502988   PMID:18515590   PMID:18806297   PMID:18928972   PMID:18936151   PMID:18987644  
PMID:19005416   PMID:19015224   PMID:19117936   PMID:19143814   PMID:19167759   PMID:19169232   PMID:19187590   PMID:19255449   PMID:19259132   PMID:19277984   PMID:19279234   PMID:19336475  
PMID:19344414   PMID:19399715   PMID:19423540   PMID:19556007   PMID:19574954   PMID:19603351   PMID:19661236   PMID:19825847   PMID:19833879   PMID:19834535   PMID:19838195   PMID:19851445  
PMID:19913121   PMID:20007824   PMID:20106822   PMID:20108004   PMID:20109314   PMID:20157618   PMID:20193965   PMID:20205591   PMID:20301541   PMID:20301598   PMID:20378180   PMID:20385819  
PMID:20385826   PMID:20406964   PMID:20438785   PMID:20466734   PMID:20523265   PMID:20575108   PMID:20587610   PMID:20628086   PMID:20801516   PMID:20837143   PMID:20848568   PMID:20861866  
PMID:20888482   PMID:21163532   PMID:21205667   PMID:21282580   PMID:21541267   PMID:21555552   PMID:21665990   PMID:21816153   PMID:21862585   PMID:21873635   PMID:21988832   PMID:22234447  
PMID:22516433   PMID:22518841   PMID:22542119   PMID:22694956   PMID:22705344   PMID:22869612   PMID:22930722   PMID:23235567   PMID:23241634   PMID:23263863   PMID:23356914   PMID:23373431  
PMID:23376485   PMID:23455636   PMID:23533145   PMID:23535732   PMID:23577725   PMID:23624872   PMID:23750785   PMID:24104479   PMID:24287422   PMID:24453474   PMID:24519512   PMID:24557084  
PMID:24652797   PMID:24667918   PMID:24739633   PMID:24837172   PMID:24906628   PMID:24965207   PMID:25057901   PMID:25532781   PMID:25604034   PMID:25758434   PMID:25802187   PMID:26186194  
PMID:26496610   PMID:26510395   PMID:26537423   PMID:26660535   PMID:26671509   PMID:26908325   PMID:27241480   PMID:27436813   PMID:27461873   PMID:27759029   PMID:28173125   PMID:28210841  
PMID:28514442   PMID:28533443   PMID:29308663   PMID:30021884   PMID:30179527   PMID:30829612   PMID:30974970   PMID:31273033   PMID:31470122   PMID:31541546   PMID:32762675   PMID:33334325  
PMID:33419768   PMID:33536243   PMID:33740660   PMID:33847939   PMID:33847940   PMID:33961781   PMID:34075561   PMID:34147816   PMID:34233521   PMID:34585312   PMID:34732716   PMID:34898340  
PMID:35831314  


Genomics

Comparative Map Data
CFB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38631,946,095 - 31,952,084 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl631,945,650 - 31,952,086 (+)EnsemblGRCh38hg38GRCh38
GRCh37631,913,872 - 31,919,861 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36632,021,752 - 32,027,839 (+)NCBINCBI36Build 36hg18NCBI36
Build 34632,021,760 - 32,027,839NCBI
Celera633,513,483 - 33,519,623 (+)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef631,700,690 - 31,706,830 (+)NCBIHuRef
CHM1_1631,915,802 - 31,921,942 (+)NCBICHM1_1
T2T-CHM13v2.0631,799,300 - 31,805,289 (+)NCBIT2T-CHM13v2.0
Cfb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391735,075,350 - 35,081,492 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1735,075,350 - 35,081,494 (-)EnsemblGRCm39 Ensembl
GRCm381734,856,374 - 34,862,514 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1734,856,374 - 34,862,518 (-)EnsemblGRCm38mm10GRCm38
MGSCv371734,993,319 - 34,999,459 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361734,464,437 - 34,470,273 (-)NCBIMGSCv36mm8
Celera1737,951,682 - 37,957,822 (-)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1718.41NCBI
Cfb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2203,970,643 - 3,976,510 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl203,951,474 - 3,976,505 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx204,670,648 - 4,676,510 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0204,032,396 - 4,038,258 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0204,569,562 - 4,575,424 (+)NCBIRnor_WKY
Rnor_6.0204,536,206 - 4,542,073 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl204,536,212 - 4,542,073 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl204,536,203 - 4,561,066 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0206,616,005 - 6,621,872 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera204,054,184 - 4,060,051 (-)NCBICelera
Cytogenetic Map20p12NCBI
Cfb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955437461,235 - 470,464 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955437461,235 - 466,908 (+)NCBIChiLan1.0ChiLan1.0
CFB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1632,492,982 - 32,499,396 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0631,606,716 - 31,612,782 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
CFB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1121,400,143 - 1,406,267 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha121,535,347 - 1,541,465 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0121,542,448 - 1,548,565 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl121,542,461 - 1,549,232 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1121,399,726 - 1,405,840 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0121,468,093 - 1,474,210 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0121,533,422 - 1,539,539 (+)NCBIUU_Cfam_GSD_1.0
Cfb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494635,959,298 - 35,965,192 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049367271,595,872 - 1,602,274 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CFB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl724,033,740 - 24,041,179 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1724,034,077 - 24,040,523 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2727,771,678 - 27,777,773 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CFB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366604431,862,788 - 31,868,803 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cfb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475424,310,247 - 24,317,366 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475424,310,344 - 24,316,482 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
RH18075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,912,999 - 31,913,221UniSTSGRCh37
Build 36632,020,978 - 32,021,200RGDNCBI36
Celera633,512,761 - 33,512,983RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,699,968 - 31,700,190UniSTS
GeneMap99-GB4 RH Map6119.16UniSTS
WI-8686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,913,123 - 31,913,225UniSTSGRCh37
Build 36632,021,102 - 32,021,204RGDNCBI36
Celera633,512,885 - 33,512,987RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,700,092 - 31,700,194UniSTS
GeneMap99-GB4 RH Map6120.03UniSTS
GeneMap99-GB4 RH Map6145.45UniSTS
Whitehead-RH Map6177.7UniSTS
RH46865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,920,035 - 31,920,164UniSTSGRCh37
Build 36632,028,014 - 32,028,143RGDNCBI36
Celera633,519,797 - 33,519,926RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,707,004 - 31,707,133UniSTS
GeneMap99-GB4 RH Map6120.03UniSTS
C2_3011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,912,933 - 31,913,528UniSTSGRCh37
Build 36632,020,912 - 32,021,507RGDNCBI36
Celera633,512,695 - 33,513,290RGD
HuRef631,699,902 - 31,700,497UniSTS
RDBP_8772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,919,667 - 31,920,183UniSTSGRCh37
Build 36632,027,646 - 32,028,162RGDNCBI36
Celera633,519,429 - 33,519,945RGD
HuRef631,706,636 - 31,707,152UniSTS
RH15801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,919,226 - 31,919,764UniSTSGRCh37
Build 36632,027,205 - 32,027,743RGDNCBI36
Celera633,518,988 - 33,519,526RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,706,195 - 31,706,733UniSTS
GeneMap99-GB4 RH Map6120.03UniSTS
SHGC-12705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,919,865 - 31,920,068UniSTSGRCh37
Build 36632,027,844 - 32,028,047RGDNCBI36
Celera633,519,627 - 33,519,830RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,706,834 - 31,707,037UniSTS
Stanford-G3 RH Map61652.0UniSTS
GeneMap99-G3 RH Map61784.0UniSTS
SGC32658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,918,508 - 31,918,951UniSTSGRCh37
Build 36632,026,487 - 32,026,930RGDNCBI36
Celera633,518,270 - 33,518,713RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,705,477 - 31,705,920UniSTS
GeneMap99-GB4 RH Map6120.03UniSTS
Whitehead-RH Map6177.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3061
Count of miRNA genes:903
Interacting mature miRNAs:1094
Transcripts:ENST00000425368, ENST00000452035, ENST00000460718, ENST00000461483, ENST00000465750, ENST00000467150, ENST00000467360, ENST00000472581, ENST00000475617, ENST00000482312, ENST00000482886, ENST00000483004, ENST00000497841, ENST00000498317, ENST00000556679
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1 131 131 131 4 1 21
Medium 1822 1628 1236 433 416 296 2288 688 1030 144 700 1201 141 1112 1511
Low 572 834 335 56 419 36 1791 1436 2588 202 688 307 30 71 1252 2
Below cutoff 36 513 17 1 835 1 233 41 84 58 60 72 2 1 24 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF011369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF019413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF023182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF033503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF033504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF037603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF102806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF102807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF349679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF551848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL645922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL701961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL844853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI258352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX005143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD689714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR388180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR388219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR759782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC368322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K01566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L15702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U97503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000425368   ⟹   ENSP00000416561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,946,095 - 31,952,084 (+)Ensembl
RefSeq Acc Id: ENST00000452035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,946,045 - 31,952,070 (+)Ensembl
RefSeq Acc Id: ENST00000460718   ⟹   ENSP00000417793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,946,126 - 31,947,969 (+)Ensembl
RefSeq Acc Id: ENST00000461483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,947,281 - 31,949,551 (+)Ensembl
RefSeq Acc Id: ENST00000465750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,948,358 - 31,949,598 (+)Ensembl
RefSeq Acc Id: ENST00000467150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,948,998 - 31,949,598 (+)Ensembl
RefSeq Acc Id: ENST00000467360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,949,731 - 31,951,244 (+)Ensembl
RefSeq Acc Id: ENST00000472581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,945,975 - 31,947,120 (+)Ensembl
RefSeq Acc Id: ENST00000475617   ⟹   ENSP00000420090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,945,650 - 31,947,141 (+)Ensembl
RefSeq Acc Id: ENST00000482312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,950,874 - 31,952,084 (+)Ensembl
RefSeq Acc Id: ENST00000482886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,948,460 - 31,949,257 (+)Ensembl
RefSeq Acc Id: ENST00000483004   ⟹   ENSP00000419887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,946,000 - 31,952,086 (+)Ensembl
RefSeq Acc Id: ENST00000497841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,945,983 - 31,949,598 (+)Ensembl
RefSeq Acc Id: ENST00000498317   ⟹   ENSP00000418833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,951,415 - 31,952,084 (+)Ensembl
RefSeq Acc Id: ENST00000698628   ⟹   ENSP00000513848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,946,094 - 31,952,084 (+)Ensembl
RefSeq Acc Id: ENST00000698629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,946,045 - 31,952,070 (+)Ensembl
RefSeq Acc Id: ENST00000698630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,946,061 - 31,952,055 (+)Ensembl
RefSeq Acc Id: ENST00000698631
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,946,066 - 31,952,042 (+)Ensembl
RefSeq Acc Id: ENST00000698632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,946,094 - 31,952,069 (+)Ensembl
RefSeq Acc Id: ENST00000698633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,946,124 - 31,952,050 (+)Ensembl
RefSeq Acc Id: ENST00000698636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl631,946,000 - 31,950,796 (+)Ensembl
RefSeq Acc Id: NM_001710   ⟹   NP_001701
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,946,095 - 31,952,084 (+)NCBI
GRCh37631,913,721 - 31,919,861 (+)ENTREZGENE
Build 36632,021,752 - 32,027,839 (+)NCBI Archive
HuRef631,700,690 - 31,706,830 (+)ENTREZGENE
CHM1_1631,915,802 - 31,921,942 (+)NCBI
T2T-CHM13v2.0631,799,300 - 31,805,289 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001701 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA16820 (Get FASTA)   NCBI Sequence Viewer  
  AAA36219 (Get FASTA)   NCBI Sequence Viewer  
  AAA36220 (Get FASTA)   NCBI Sequence Viewer  
  AAA36225 (Get FASTA)   NCBI Sequence Viewer  
  AAA36226 (Get FASTA)   NCBI Sequence Viewer  
  AAA59625 (Get FASTA)   NCBI Sequence Viewer  
  AAB67977 (Get FASTA)   NCBI Sequence Viewer  
  AAD13989 (Get FASTA)   NCBI Sequence Viewer  
  AAH04143 (Get FASTA)   NCBI Sequence Viewer  
  AAH07990 (Get FASTA)   NCBI Sequence Viewer  
  AAK30167 (Get FASTA)   NCBI Sequence Viewer  
  AAN71991 (Get FASTA)   NCBI Sequence Viewer  
  AAQ13379 (Get FASTA)   NCBI Sequence Viewer  
  AAQ13380 (Get FASTA)   NCBI Sequence Viewer  
  AAQ13401 (Get FASTA)   NCBI Sequence Viewer  
  AAQ13410 (Get FASTA)   NCBI Sequence Viewer  
  AAQ13413 (Get FASTA)   NCBI Sequence Viewer  
  AAQ13418 (Get FASTA)   NCBI Sequence Viewer  
  AAQ13419 (Get FASTA)   NCBI Sequence Viewer  
  AAQ13421 (Get FASTA)   NCBI Sequence Viewer  
  AAQ13484 (Get FASTA)   NCBI Sequence Viewer  
  AAQ13485 (Get FASTA)   NCBI Sequence Viewer  
  AQY76737 (Get FASTA)   NCBI Sequence Viewer  
  AQY76738 (Get FASTA)   NCBI Sequence Viewer  
  AQY76739 (Get FASTA)   NCBI Sequence Viewer  
  AQY76740 (Get FASTA)   NCBI Sequence Viewer  
  AQY76741 (Get FASTA)   NCBI Sequence Viewer  
  AQY76742 (Get FASTA)   NCBI Sequence Viewer  
  AQY76743 (Get FASTA)   NCBI Sequence Viewer  
  AQY76744 (Get FASTA)   NCBI Sequence Viewer  
  AQY76745 (Get FASTA)   NCBI Sequence Viewer  
  BAD97120 (Get FASTA)   NCBI Sequence Viewer  
  BAG64953 (Get FASTA)   NCBI Sequence Viewer  
  CAA25077 (Get FASTA)   NCBI Sequence Viewer  
  CAA51389 (Get FASTA)   NCBI Sequence Viewer  
  EAX03550 (Get FASTA)   NCBI Sequence Viewer  
  P00751 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001701   ⟸   NM_001710
- Peptide Label: preproprotein
- UniProtKB: Q9BX92 (UniProtKB/Swiss-Prot),   P00751 (UniProtKB/Swiss-Prot),   A0A1U9X7H8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000416561   ⟸   ENST00000425368
RefSeq Acc Id: ENSP00000419887   ⟸   ENST00000483004
RefSeq Acc Id: ENSP00000418833   ⟸   ENST00000498317
RefSeq Acc Id: ENSP00000417793   ⟸   ENST00000460718
RefSeq Acc Id: ENSP00000420090   ⟸   ENST00000475617
RefSeq Acc Id: ENSP00000513848   ⟸   ENST00000698628
Protein Domains
Peptidase S1   Sushi   VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P00751-F1-model_v2 AlphaFold P00751 1-764 view protein structure

Promoters
RGD ID:6872686
Promoter ID:EPDNEW_H9508
Type:initiation region
Name:CFB_1
Description:complement factor B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9509  EPDNEW_H9510  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,946,097 - 31,946,157EPDNEW
RGD ID:6872688
Promoter ID:EPDNEW_H9509
Type:initiation region
Name:CFB_3
Description:complement factor B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9508  EPDNEW_H9510  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,951,439 - 31,951,499EPDNEW
RGD ID:6872690
Promoter ID:EPDNEW_H9510
Type:initiation region
Name:CFB_2
Description:complement factor B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9508  EPDNEW_H9509  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38631,951,895 - 31,951,955EPDNEW
RGD ID:6803905
Promoter ID:HG_KWN:53025
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000375443,   NM_001710,   OTTHUMT00000268593,   OTTHUMT00000268594,   UC003NYI.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36632,021,441 - 32,021,941 (+)MPROMDB
RGD ID:6849872
Promoter ID:EP15054
Type:single initiation site
Name:HS_BF
Description:Complement factor B.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension
Regulation:liver; (induced by or strongly expressed in) g' (repressed by or weakly expressed in) IFN, (induced by or strongly expressed in) IL (repressed by or weakly expressed in) 1
Position:
Human AssemblyChrPosition (strand)Source
Build 36632,021,849 - 32,021,909EPD
RGD ID:6803890
Promoter ID:HG_KWN:53026
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000268595,   OTTHUMT00000268596
Position:
Human AssemblyChrPosition (strand)Source
Build 36632,022,891 - 32,023,391 (+)MPROMDB
RGD ID:6803891
Promoter ID:HG_KWN:53027
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000268597,   OTTHUMT00000268598,   OTTHUMT00000268599
Position:
Human AssemblyChrPosition (strand)Source
Build 36632,023,891 - 32,025,667 (+)MPROMDB
RGD ID:6803894
Promoter ID:HG_KWN:53028
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000268600,   OTTHUMT00000268601
Position:
Human AssemblyChrPosition (strand)Source
Build 36632,026,026 - 32,027,042 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) single nucleotide variant Age related macular degeneration 14 [RCV000017458]|Atypical hemolytic-uremic syndrome [RCV000259759]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001154197]|BF*FA/S [RCV000017454]|Complement component 2 deficiency [RCV000281261]|Factor B fast/slow polymorphism [RCV000017453]|Macular degeneration [RCV000319518]|not provided [RCV001515636]|not specified [RCV000455762] Chr6:31946403 [GRCh38]
Chr6:31914180 [GRCh37]
Chr6:6p21.33
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|protective
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000293644]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001154196]|Complement component 2 deficiency [RCV000324934]|Factor B fast/slow polymorphism [RCV000017455]|Macular degeneration [RCV000324324]|not provided [RCV001510498] Chr6:31946402 [GRCh38]
Chr6:31914179 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.26T>A (p.Leu9His) single nucleotide variant Age related macular degeneration 14 [RCV000017457]|Atypical hemolytic-uremic syndrome [RCV000264554]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001154195]|Complement component 2 deficiency [RCV000385220]|Macular degeneration [RCV000288622]|not provided [RCV001516300]|not specified [RCV000454952] Chr6:31946247 [GRCh38]
Chr6:31914024 [GRCh37]
Chr6:6p21.33
pathogenic|benign|likely benign
NM_001710.6(CFB):c.858C>G (p.Phe286Leu) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000017459] Chr6:31948042 [GRCh38]
Chr6:31915819 [GRCh37]
Chr6:6p21.33
risk factor
NM_001710.6(CFB):c.967A>G (p.Lys323Glu) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000017460] Chr6:31948443 [GRCh38]
Chr6:31916220 [GRCh37]
Chr6:6p21.33
risk factor
NM_001710.5(CFB):c.804C>T (p.Ser268=) single nucleotide variant Malignant melanoma [RCV000067296] Chr6:31947988 [GRCh38]
Chr6:31915765 [GRCh37]
Chr6:32023744 [NCBI36]
Chr6:6p21.33
not provided
NM_001710.5(CFB):c.1625-81G>T single nucleotide variant Malignant melanoma [RCV000067297] Chr6:31950538 [GRCh38]
Chr6:31918315 [GRCh37]
Chr6:32026294 [NCBI36]
Chr6:6p21.33
not provided
NM_001710.5(CFB):c.1518G>A (p.Lys506=) single nucleotide variant Malignant melanoma [RCV000061395] Chr6:31950297 [GRCh38]
Chr6:31918074 [GRCh37]
Chr6:32026053 [NCBI36]
Chr6:6p21.33
not provided
NM_002904.5(NELFE):c.1002C>G (p.Pro334=) single nucleotide variant Malignant melanoma [RCV000067298] Chr6:31953772 [GRCh38]
Chr6:31921549 [GRCh37]
Chr6:32029528 [NCBI36]
Chr6:6p21.33
not provided
NM_002904.5(NELFE):c.756C>T (p.Phe252=) single nucleotide variant Malignant melanoma [RCV000067299] Chr6:31954429 [GRCh38]
Chr6:31922206 [GRCh37]
Chr6:32030185 [NCBI36]
Chr6:6p21.33
not provided
NM_002904.5(NELFE):c.624G>A (p.Arg208=) single nucleotide variant Malignant melanoma [RCV000067300] Chr6:31954673 [GRCh38]
Chr6:31922450 [GRCh37]
Chr6:32030429 [NCBI36]
Chr6:6p21.33
not provided
NM_002904.5(NELFE):c.331C>T (p.Gln111Ter) single nucleotide variant Malignant melanoma [RCV000067301] Chr6:31955254 [GRCh38]
Chr6:31923031 [GRCh37]
Chr6:32031010 [NCBI36]
Chr6:6p21.33
not provided
NM_001710.6(CFB):c.766C>T (p.Gln256Ter) single nucleotide variant Complement factor b deficiency [RCV000077869] Chr6:31947950 [GRCh38]
Chr6:31915727 [GRCh37]
Chr6:6p21.33
pathogenic
NM_001710.6(CFB):c.1895_1898del (p.Phe632fs) deletion Complement factor b deficiency [RCV000077870] Chr6:31951180..31951183 [GRCh38]
Chr6:31918957..31918960 [GRCh37]
Chr6:6p21.33
pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000358897]|Complement component 2 deficiency [RCV000987667]|Complement factor b deficiency [RCV000490470]|Macular degeneration [RCV000301571]|not provided [RCV001512630] Chr6:31950691 [GRCh38]
Chr6:31918468 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.1227A>G (p.Leu409=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000284637]|Macular degeneration [RCV000377618] Chr6:31949301 [GRCh38]
Chr6:31917078 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.604C>T (p.Arg202Trp) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000333744]|Macular degeneration [RCV000274003] Chr6:31947467 [GRCh38]
Chr6:31915244 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_001710.6(CFB):c.*47C>T single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000345355]|Macular degeneration [RCV000390672] Chr6:31952077 [GRCh38]
Chr6:31919854 [GRCh37]
Chr6:6p21.33
benign|likely benign|uncertain significance
NM_001710.6(CFB):c.*23C>T single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000389429]|Macular degeneration [RCV000288022]|not provided [RCV001683416] Chr6:31952053 [GRCh38]
Chr6:31919830 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV001328121]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000405609]|Macular degeneration [RCV000287217]|not provided [RCV001460839] Chr6:31947807 [GRCh38]
Chr6:31915584 [GRCh37]
Chr6:6p21.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001710.6(CFB):c.2100C>T (p.Gly700=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000319999]|Macular degeneration [RCV000386228]|not provided [RCV002058596] Chr6:31951565 [GRCh38]
Chr6:31919342 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000272181]|Macular degeneration [RCV000364523]|not provided [RCV001518263] Chr6:31950687 [GRCh38]
Chr6:31918464 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.-3G>A single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000308998]|Macular degeneration [RCV000272584] Chr6:31946219 [GRCh38]
Chr6:31913996 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.720G>A (p.Glu240=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000340971]|Macular degeneration [RCV000290871] Chr6:31947803 [GRCh38]
Chr6:31915580 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_001710.6(CFB):c.291G>A (p.Glu97=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000390739]|Macular degeneration [RCV000309787]|not provided [RCV002058592] Chr6:31946599 [GRCh38]
Chr6:31914376 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_001710.6(CFB):c.1037-10C>G single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000311154]|Macular degeneration [RCV000397774]|not provided [RCV002058594] Chr6:31948820 [GRCh38]
Chr6:31916597 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.5(CFB):c.-186del deletion Atypical hemolytic-uremic syndrome [RCV000307739]|Macular degeneration [RCV000362529] Chr6:31946033 [GRCh38]
Chr6:31913810 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1037-10C>T single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000370488]|Macular degeneration [RCV000275948]|not provided [RCV002058595] Chr6:31948820 [GRCh38]
Chr6:31916597 [GRCh37]
Chr6:6p21.33
benign|uncertain significance
NM_001710.6(CFB):c.*16A>T single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000351262]|Macular degeneration [RCV000294043] Chr6:31952046 [GRCh38]
Chr6:31919823 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.321C>T (p.His107=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000393292]|Macular degeneration [RCV000345919]|not provided [RCV002058593] Chr6:31947029 [GRCh38]
Chr6:31914806 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_001710.6(CFB):c.1524C>A (p.His508Gln) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000405241]|Macular degeneration [RCV000282119] Chr6:31950303 [GRCh38]
Chr6:31918080 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1778+9G>A single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000266451]|Macular degeneration [RCV000324029]|not provided [RCV001702439] Chr6:31950781 [GRCh38]
Chr6:31918558 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000408756]|Macular degeneration [RCV000278683]|not provided [RCV001850890] Chr6:31949556 [GRCh38]
Chr6:31917333 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_001710.6(CFB):c.1889C>T (p.Ala630Val) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000371654]|Macular degeneration [RCV000262453] Chr6:31951177 [GRCh38]
Chr6:31918954 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1217G>A (p.Arg406Gln) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000408772] Chr6:31949291 [GRCh38]
Chr6:31917068 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1861G>A (p.Glu621Lys) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000408816]|not provided [RCV001865255] Chr6:31951149 [GRCh38]
Chr6:31918926 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.2140-74A>G single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001579001]|Complement factor b deficiency [RCV001579000]|not provided [RCV001694129] Chr6:31951801 [GRCh38]
Chr6:31919578 [GRCh37]
Chr6:6p21.33
benign
NM_000063.6(C2):c.1778G>A (p.Arg593Gln) single nucleotide variant Age related macular degeneration 14 [RCV000407805]|Atypical hemolytic-uremic syndrome [RCV000307096]|Complement component 2 deficiency [RCV001152808]|not provided [RCV002058835] Chr6:31943961 [GRCh38]
Chr6:31911738 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000397050]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001155246]|Complement component 2 deficiency [RCV000405285]|Complement factor b deficiency [RCV000490377]|Macular degeneration [RCV000307542]|not provided [RCV000438164]|not specified [RCV000455606] Chr6:31950377 [GRCh38]
Chr6:31918154 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_000063.6(C2):c.1902+6G>C single nucleotide variant Age related macular degeneration 14 [RCV001095022]|Atypical hemolytic-uremic syndrome [RCV000367408]|Complement component 2 deficiency [RCV000313180]|Macular degeneration [RCV000312698]|not provided [RCV001514655] Chr6:31944232 [GRCh38]
Chr6:31912009 [GRCh37]
Chr6:6p21.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_001710.6(CFB):c.600C>T (p.Ser200=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000368978]|Complement component 2 deficiency [RCV000362524]|Macular degeneration [RCV000318910]|not provided [RCV001515475]|not specified [RCV001701870] Chr6:31947463 [GRCh38]
Chr6:31915240 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.1365C>T (p.Val455=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000323227]|Complement component 2 deficiency [RCV000393799]|Macular degeneration [RCV000342850]|not provided [RCV001523286]|not specified [RCV001702357] Chr6:31949514 [GRCh38]
Chr6:31917291 [GRCh37]
Chr6:6p21.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_000063.6(C2):c.2080-8T>C single nucleotide variant Age related macular degeneration 14 [RCV001095050]|Atypical hemolytic-uremic syndrome [RCV000324718]|Complement component 2 deficiency [RCV000329458]|Macular degeneration [RCV000360930]|not provided [RCV002058589] Chr6:31945170 [GRCh38]
Chr6:31912947 [GRCh37]
Chr6:6p21.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000063.6(C2):c.2046A>G (p.Ala682=) single nucleotide variant Age related macular degeneration 14 [RCV001095049]|Atypical hemolytic-uremic syndrome [RCV000355015]|Complement component 2 deficiency [RCV000269678]|Macular degeneration [RCV000260084]|not provided [RCV001511745] Chr6:31944996 [GRCh38]
Chr6:31912773 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_000063.6(C2):c.1360+1G>A single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000260406]|C2-related disorders [RCV000778786]|Macular degeneration [RCV000315667]|not provided [RCV001861354] Chr6:31943100 [GRCh38]
Chr6:31910877 [GRCh37]
Chr6:6p21.33
pathogenic|likely pathogenic|likely benign|uncertain significance
NM_001710.6(CFB):c.504G>A (p.Pro168=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000353755]|Complement component 2 deficiency [RCV000271771]|Macular degeneration [RCV000263692]|not provided [RCV001516301]|not specified [RCV001701869] Chr6:31947367 [GRCh38]
Chr6:31915144 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_000063.6(C2):c.*304A>G single nucleotide variant Age related macular degeneration 14 [RCV001095002]|Atypical hemolytic-uremic syndrome [RCV000266167]|Complement component 2 deficiency [RCV000351922]|Macular degeneration [RCV000321404] Chr6:31945661 [GRCh38]
Chr6:31913438 [GRCh37]
Chr6:6p21.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001710.6(CFB):c.672C>T (p.Tyr224=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000326038]|Complement component 2 deficiency [RCV000270236]|Macular degeneration [RCV000332230]|not provided [RCV001519632]|not specified [RCV001700344] Chr6:31947755 [GRCh38]
Chr6:31915532 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.1143C>T (p.Arg381=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000327615]|Complement component 2 deficiency [RCV000285597]|Macular degeneration [RCV000272516]|not provided [RCV000513455] Chr6:31948936 [GRCh38]
Chr6:31916713 [GRCh37]
Chr6:6p21.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000063.6(C2):c.1922T>C (p.Val641Ala) single nucleotide variant Age related macular degeneration 14 [RCV001095023]|Atypical hemolytic-uremic syndrome [RCV000406201]|Complement component 2 deficiency [RCV000314384]|Macular degeneration [RCV000277437]|not provided [RCV001516641]|not specified [RCV001702630] Chr6:31944746 [GRCh38]
Chr6:31912523 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.1137C>T (p.Arg379=) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000362438]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001156807]|Complement component 2 deficiency [RCV000334269]|Macular degeneration [RCV000282122]|not provided [RCV001512629]|not specified [RCV001821084] Chr6:31948930 [GRCh38]
Chr6:31916707 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) single nucleotide variant Age related macular degeneration 14 [RCV001095044]|Atypical hemolytic-uremic syndrome [RCV000285510]|Complement component 2 deficiency [RCV000329987]|Macular degeneration [RCV000379644]|not provided [RCV002058586] Chr6:31943278 [GRCh38]
Chr6:31911055 [GRCh37]
Chr6:6p21.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001710.6(CFB):c.656A>T (p.Gln219Leu) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000388200]|Macular degeneration [RCV000289716] Chr6:31947519 [GRCh38]
Chr6:31915296 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1529G>A (p.Arg510His) single nucleotide variant Age related macular degeneration 14 [RCV001095132]|Atypical hemolytic-uremic syndrome [RCV000346703]|Complement component 2 deficiency [RCV000380934]|Macular degeneration [RCV000291215]|not provided [RCV002058588] Chr6:31943489 [GRCh38]
Chr6:31911266 [GRCh37]
Chr6:6p21.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001710.6(CFB):c.754G>A (p.Gly252Ser) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000397763]|Complement component 2 deficiency [RCV000292626]|Macular degeneration [RCV000342226]|not provided [RCV001509707] Chr6:31947837 [GRCh38]
Chr6:31915614 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_000063.6(C2):c.1450A>G (p.Ile484Val) single nucleotide variant Age related macular degeneration 14 [RCV001095045]|Atypical hemolytic-uremic syndrome [RCV000340424]|Complement component 2 deficiency [RCV000294690]|Macular degeneration [RCV000326280]|not provided [RCV002058587] Chr6:31943314 [GRCh38]
Chr6:31911091 [GRCh37]
Chr6:6p21.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001710.6(CFB):c.221G>A (p.Arg74His) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000294898]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001155035]|Complement component 2 deficiency [RCV000404287]|Macular degeneration [RCV000338675]|not provided [RCV002058591] Chr6:31946529 [GRCh38]
Chr6:31914306 [GRCh37]
Chr6:6p21.33
benign|likely benign
Single allele variation Complement component 2 deficiency [RCV000296644]|Macular degeneration [RCV000349223] Chr6:31914179..31914180 [GRCh37] benign
NM_001710.6(CFB):c.1593T>C (p.Asp531=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000352102]|Macular degeneration [RCV000313577] Chr6:31950372 [GRCh38]
Chr6:31918149 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) single nucleotide variant Age related macular degeneration 14 [RCV001094998]|Atypical hemolytic-uremic syndrome [RCV000402567]|Complement component 2 deficiency [RCV000297858]|Macular degeneration [RCV000352503]|not provided [RCV001437246] Chr6:31944159 [GRCh38]
Chr6:31911936 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.405C>T (p.Tyr135=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000301807]|Complement component 2 deficiency [RCV000298747]|Macular degeneration [RCV000360649]|not provided [RCV001512220] Chr6:31947113 [GRCh38]
Chr6:31914890 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.450A>G (p.Arg150=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000298932]|Complement component 2 deficiency [RCV000302130]|Complement factor b deficiency [RCV001578999]|Macular degeneration [RCV000393257]|not provided [RCV001515637] Chr6:31947158 [GRCh38]
Chr6:31914935 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.858C>T (p.Phe286=) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000300468]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001155150]|Complement component 2 deficiency [RCV000374284]|Macular degeneration [RCV000331208]|not provided [RCV001517537]|not specified [RCV001821083] Chr6:31948042 [GRCh38]
Chr6:31915819 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.1524C>T (p.His508=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV000405956]|Complement component 2 deficiency [RCV000346187]|Macular degeneration [RCV000303114]|not provided [RCV001514656]|not specified [RCV001821085] Chr6:31950303 [GRCh38]
Chr6:31918080 [GRCh37]
Chr6:6p21.33
benign|likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 copy number gain not provided [RCV000745592] Chr6:28130359..32108367 [GRCh37]
Chr6:6p22.1-21.32
uncertain significance
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001029953]|not provided [RCV001862429] Chr6:31949523 [GRCh38]
Chr6:31917300 [GRCh37]
Chr6:6p21.33
pathogenic|uncertain significance
NM_001710.6(CFB):c.898-89A>G single nucleotide variant not provided [RCV001690853] Chr6:31948285 [GRCh38]
Chr6:31916062 [GRCh37]
Chr6:6p21.33
benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_001710.6(CFB):c.2069C>T (p.Ala690Val) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001151484]|Macular degeneration [RCV001151485] Chr6:31951453 [GRCh38]
Chr6:31919230 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1290C>T (p.Val430=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001151376]|Macular degeneration [RCV001151375]|not provided [RCV002070833] Chr6:31949439 [GRCh38]
Chr6:31917216 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_001710.6(CFB):c.274A>T (p.Thr92Ser) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001155037]|Macular degeneration [RCV001155036]|not provided [RCV002070899] Chr6:31946582 [GRCh38]
Chr6:31914359 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_001710.6(CFB):c.917A>G (p.Lys306Arg) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001155152]|Macular degeneration [RCV001155151] Chr6:31948393 [GRCh38]
Chr6:31916170 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3 copy number gain not provided [RCV001005791] Chr6:31036397..34088832 [GRCh37]
Chr6:6p21.33-21.31
likely pathogenic
NM_001710.6(CFB):c.1408+206T>C single nucleotide variant not provided [RCV001659453] Chr6:31949763 [GRCh38]
Chr6:31917540 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.1036+111A>G single nucleotide variant not provided [RCV001708212] Chr6:31948623 [GRCh38]
Chr6:31916400 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.334G>C (p.Gly112Arg) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001156696]|Macular degeneration [RCV001156697] Chr6:31947042 [GRCh38]
Chr6:31914819 [GRCh37]
Chr6:6p21.33
uncertain significance
NC_000006.12:g.31946023T>C single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001152917]|Macular degeneration [RCV001152918] Chr6:31946023 [GRCh38]
Chr6:31913800 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.118G>A (p.Glu40Lys) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001029979] Chr6:31946426 [GRCh38]
Chr6:31914203 [GRCh37]
Chr6:6p21.33
uncertain significance
GRCh37/hg19 6p21.33-21.32(chr6:31916915-32278000)x3 copy number gain not provided [RCV001005792] Chr6:31916915..32278000 [GRCh37]
Chr6:6p21.33-21.32
uncertain significance
NM_001710.6(CFB):c.1856-61A>G single nucleotide variant not provided [RCV001654393] Chr6:31951083 [GRCh38]
Chr6:31918860 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.1169-69T>C single nucleotide variant not provided [RCV001698594] Chr6:31949174 [GRCh38]
Chr6:31916951 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.784G>A (p.Val262Ile) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001155149]|Macular degeneration [RCV001155148]|not provided [RCV002070901] Chr6:31947968 [GRCh38]
Chr6:31915745 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_001710.6(CFB):c.1953T>G (p.Asp651Glu) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001151481]|Macular degeneration [RCV001151480]|not provided [RCV001520912] Chr6:31951241 [GRCh38]
Chr6:31919018 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.1548G>A (p.Val516=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001154410]|Macular degeneration [RCV001154411]|not provided [RCV002070891] Chr6:31950327 [GRCh38]
Chr6:31918104 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.1169-104A>G single nucleotide variant not provided [RCV001670842] Chr6:31949139 [GRCh38]
Chr6:31916916 [GRCh37]
Chr6:6p21.33
benign
NM_002904.6(NELFE):c.*161A>G single nucleotide variant not provided [RCV001609187] Chr6:31952140 [GRCh38]
Chr6:31919917 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.1408+223_1408+224insAT insertion not provided [RCV001649621] Chr6:31949780..31949781 [GRCh38]
Chr6:31917557..31917558 [GRCh37]
Chr6:6p21.33
benign
NM_000063.6(C2):c.1577A>G (p.Lys526Arg) single nucleotide variant Age related macular degeneration 14 [RCV001158285]|Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001158288]|Complement component 2 deficiency [RCV001158286]|Macular degeneration [RCV001158287]|not provided [RCV002032465] Chr6:31943653 [GRCh38]
Chr6:31911430 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_001710.6(CFB):c.1956+10G>A single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001151483]|Macular degeneration [RCV001151482] Chr6:31951254 [GRCh38]
Chr6:31919031 [GRCh37]
Chr6:6p21.33
benign|uncertain significance
NM_001710.6(CFB):c.1803G>A (p.Glu601=) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001156913]|Macular degeneration [RCV001156912] Chr6:31950892 [GRCh38]
Chr6:31918669 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1838C>T (p.Thr613Ile) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001156915]|Macular degeneration [RCV001156914]|not provided [RCV002070929] Chr6:31950927 [GRCh38]
Chr6:31918704 [GRCh37]
Chr6:6p21.33
likely benign|uncertain significance
NM_001710.6(CFB):c.427C>T (p.Arg143Cys) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001029828]|not provided [RCV001862422] Chr6:31947135 [GRCh38]
Chr6:31914912 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1762T>C (p.Tyr588His) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001155248]|Macular degeneration [RCV001155247]|not provided [RCV002032432] Chr6:31950756 [GRCh38]
Chr6:31918533 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.301A>G (p.Ile101Val) single nucleotide variant not provided [RCV001304322] Chr6:31947009 [GRCh38]
Chr6:31914786 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.658+7T>C single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001281059]|not provided [RCV002069496] Chr6:31947528 [GRCh38]
Chr6:31915305 [GRCh37]
Chr6:6p21.33
benign|uncertain significance
NM_001710.6(CFB):c.1198A>G (p.Thr400Ala) single nucleotide variant Complement factor b deficiency [RCV001267751] Chr6:31949272 [GRCh38]
Chr6:31917049 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1775T>C (p.Ile592Thr) single nucleotide variant not provided [RCV001296610] Chr6:31950769 [GRCh38]
Chr6:31918546 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.503C>T (p.Pro168Leu) single nucleotide variant Atypical hemolytic-uremic syndrome with B factor anomaly [RCV001353352]|not provided [RCV001871915] Chr6:31947366 [GRCh38]
Chr6:31915143 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.724A>G (p.Ile242Val) single nucleotide variant not provided [RCV001373761] Chr6:31947807 [GRCh38]
Chr6:31915584 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.622G>A (p.Gly208Ser) single nucleotide variant not provided [RCV001372047] Chr6:31947485 [GRCh38]
Chr6:31915262 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1879G>A (p.Asp627Asn) single nucleotide variant not provided [RCV001344714] Chr6:31951167 [GRCh38]
Chr6:31918944 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1002G>C (p.Trp334Cys) single nucleotide variant not provided [RCV001323414] Chr6:31948478 [GRCh38]
Chr6:31916255 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1105C>G (p.Pro369Ala) single nucleotide variant not provided [RCV001322586] Chr6:31948898 [GRCh38]
Chr6:31916675 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1459G>T (p.Gly487Cys) single nucleotide variant not provided [RCV001308812] Chr6:31950100 [GRCh38]
Chr6:31917877 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1856-18C>T single nucleotide variant not provided [RCV001516137] Chr6:31951126 [GRCh38]
Chr6:31918903 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.897+17_897+34del deletion not provided [RCV001474480] Chr6:31948098..31948115 [GRCh38]
Chr6:31915875..31915892 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1296T>G (p.Pro432=) single nucleotide variant not provided [RCV001458122] Chr6:31949445 [GRCh38]
Chr6:31917222 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.2211C>T (p.His737=) single nucleotide variant not provided [RCV001482065] Chr6:31951946 [GRCh38]
Chr6:31919723 [GRCh37]
Chr6:6p21.33
likely benign
NM_002904.6(NELFE):c.*122A>G single nucleotide variant not provided [RCV001673843] Chr6:31952179 [GRCh38]
Chr6:31919956 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.658+15G>A single nucleotide variant not provided [RCV001498745] Chr6:31947536 [GRCh38]
Chr6:31915313 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1408+7A>C single nucleotide variant not provided [RCV001513638] Chr6:31949564 [GRCh38]
Chr6:31917341 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.480C>T (p.Asn160=) single nucleotide variant not provided [RCV001489036] Chr6:31947188 [GRCh38]
Chr6:31914965 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1942A>T (p.Lys648Ter) single nucleotide variant Neutropenia [RCV002227874] Chr6:31951230 [GRCh38]
Chr6:31919007 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.978A>C (p.Glu326Asp) single nucleotide variant not provided [RCV002074257]|not specified [RCV001822206] Chr6:31948454 [GRCh38]
Chr6:31916231 [GRCh37]
Chr6:6p21.33
benign|likely benign
NM_001710.6(CFB):c.1309G>A (p.Val437Met) single nucleotide variant not provided [RCV001863723] Chr6:31949458 [GRCh38]
Chr6:31917235 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.362A>G (p.Tyr121Cys) single nucleotide variant not provided [RCV001915338] Chr6:31947070 [GRCh38]
Chr6:31914847 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1897G>T (p.Val633Leu) single nucleotide variant not provided [RCV001864455] Chr6:31951185 [GRCh38]
Chr6:31918962 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.139G>A (p.Gly47Ser) single nucleotide variant not provided [RCV002004994] Chr6:31946447 [GRCh38]
Chr6:31914224 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.939A>G (p.Thr313=) single nucleotide variant not provided [RCV001929221] Chr6:31948415 [GRCh38]
Chr6:31916192 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1587T>A (p.Thr529=) single nucleotide variant not provided [RCV001915494] Chr6:31950366 [GRCh38]
Chr6:31918143 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.507C>T (p.Gly169=) single nucleotide variant not provided [RCV002025091] Chr6:31947370 [GRCh38]
Chr6:31915147 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1973G>A (p.Arg658Lys) single nucleotide variant not provided [RCV001949053] Chr6:31951357 [GRCh38]
Chr6:31919134 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.220C>T (p.Arg74Cys) single nucleotide variant not provided [RCV001890314] Chr6:31946528 [GRCh38]
Chr6:31914305 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1538G>A (p.Gly513Glu) single nucleotide variant not provided [RCV002008640] Chr6:31950317 [GRCh38]
Chr6:31918094 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.2292A>G (p.Leu764=) single nucleotide variant not provided [RCV001965230] Chr6:31952027 [GRCh38]
Chr6:31919804 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1729G>A (p.Val577Ile) single nucleotide variant not provided [RCV001985742] Chr6:31950723 [GRCh38]
Chr6:31918500 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.2188C>T (p.Arg730Trp) single nucleotide variant not provided [RCV001968676] Chr6:31951923 [GRCh38]
Chr6:31919700 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1271-1G>A single nucleotide variant not provided [RCV002043074] Chr6:31949419 [GRCh38]
Chr6:31917196 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.118G>C (p.Glu40Gln) single nucleotide variant not provided [RCV001871197] Chr6:31946426 [GRCh38]
Chr6:31914203 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1625-17C>G single nucleotide variant not provided [RCV002002633] Chr6:31950602 [GRCh38]
Chr6:31918379 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.989G>C (p.Ser330Thr) single nucleotide variant not provided [RCV001892396] Chr6:31948465 [GRCh38]
Chr6:31916242 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.346C>T (p.Pro116Ser) single nucleotide variant not provided [RCV002003195] Chr6:31947054 [GRCh38]
Chr6:31914831 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.148C>T (p.Arg50Ter) single nucleotide variant not provided [RCV002022957] Chr6:31946456 [GRCh38]
Chr6:31914233 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.2005G>C (p.Val669Leu) single nucleotide variant not provided [RCV001891310] Chr6:31951389 [GRCh38]
Chr6:31919166 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.2272G>A (p.Asp758Asn) single nucleotide variant not provided [RCV001870729] Chr6:31952007 [GRCh38]
Chr6:31919784 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.247A>G (p.Ser83Gly) single nucleotide variant not provided [RCV001892784] Chr6:31946555 [GRCh38]
Chr6:31914332 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.776G>A (p.Arg259Gln) single nucleotide variant not provided [RCV001947279] Chr6:31947960 [GRCh38]
Chr6:31915737 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.413G>A (p.Arg138Gln) single nucleotide variant not provided [RCV002041600] Chr6:31947121 [GRCh38]
Chr6:31914898 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.842T>C (p.Ile281Thr) single nucleotide variant not provided [RCV002003034] Chr6:31948026 [GRCh38]
Chr6:31915803 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1405A>T (p.Ile469Phe) single nucleotide variant not provided [RCV001969779] Chr6:31949554 [GRCh38]
Chr6:31917331 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1037-7T>G single nucleotide variant not provided [RCV002003483] Chr6:31948823 [GRCh38]
Chr6:31916600 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1114G>A (p.Val372Ile) single nucleotide variant not provided [RCV002040327] Chr6:31948907 [GRCh38]
Chr6:31916684 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.728A>G (p.Glu243Gly) single nucleotide variant not provided [RCV001966357] Chr6:31947811 [GRCh38]
Chr6:31915588 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1582T>G (p.Phe528Val) single nucleotide variant not provided [RCV001887421] Chr6:31950361 [GRCh38]
Chr6:31918138 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.871A>C (p.Lys291Gln) single nucleotide variant not provided [RCV001881870] Chr6:31948055 [GRCh38]
Chr6:31915832 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1481C>A (p.Pro494Gln) single nucleotide variant not provided [RCV002000926] Chr6:31950122 [GRCh38]
Chr6:31917899 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1696G>A (p.Glu566Lys) single nucleotide variant not provided [RCV001988922] Chr6:31950690 [GRCh38]
Chr6:31918467 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.578G>A (p.Arg193Gln) single nucleotide variant not provided [RCV002033342] Chr6:31947441 [GRCh38]
Chr6:31915218 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.2203C>A (p.Pro735Thr) single nucleotide variant not provided [RCV001979564] Chr6:31951938 [GRCh38]
Chr6:31919715 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.52C>A (p.Leu18Ile) single nucleotide variant not provided [RCV001979186] Chr6:31946273 [GRCh38]
Chr6:31914050 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1508G>A (p.Arg503His) single nucleotide variant not provided [RCV001917351] Chr6:31950287 [GRCh38]
Chr6:31918064 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.731_732inv (p.Gly244Val) inversion not provided [RCV002000634] Chr6:31947814..31947815 [GRCh38]
Chr6:31915591..31915592 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1507C>T (p.Arg503Cys) single nucleotide variant not provided [RCV001904754] Chr6:31950286 [GRCh38]
Chr6:31918063 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.2212G>A (p.Ala738Thr) single nucleotide variant not provided [RCV002051352] Chr6:31951947 [GRCh38]
Chr6:31919724 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1158_1160del (p.Met387del) deletion not provided [RCV002011735] Chr6:31948950..31948952 [GRCh38]
Chr6:31916727..31916729 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.149G>A (p.Arg50Gln) single nucleotide variant not provided [RCV001919454] Chr6:31946457 [GRCh38]
Chr6:31914234 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.641C>T (p.Thr214Met) single nucleotide variant not provided [RCV001993806] Chr6:31947504 [GRCh38]
Chr6:31915281 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1862A>G (p.Glu621Gly) single nucleotide variant not provided [RCV002045991] Chr6:31951150 [GRCh38]
Chr6:31918927 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.281G>C (p.Arg94Thr) single nucleotide variant not provided [RCV001990359] Chr6:31946589 [GRCh38]
Chr6:31914366 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.64G>A (p.Gly22Ser) single nucleotide variant not provided [RCV001885626] Chr6:31946285 [GRCh38]
Chr6:31914062 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.728_730del (p.Glu243del) deletion not provided [RCV001877474] Chr6:31947809..31947811 [GRCh38]
Chr6:31915586..31915588 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.652T>G (p.Cys218Gly) single nucleotide variant not provided [RCV002012966] Chr6:31947515 [GRCh38]
Chr6:31915292 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1937A>C (p.Tyr646Ser) single nucleotide variant not provided [RCV001974095] Chr6:31951225 [GRCh38]
Chr6:31919002 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.604C>G (p.Arg202Gly) single nucleotide variant not provided [RCV001916626] Chr6:31947467 [GRCh38]
Chr6:31915244 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.349C>T (p.Arg117Trp) single nucleotide variant not provided [RCV002033027] Chr6:31947057 [GRCh38]
Chr6:31914834 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1641C>G (p.Asp547Glu) single nucleotide variant not provided [RCV001976996] Chr6:31950635 [GRCh38]
Chr6:31918412 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.958A>G (p.Ile320Val) single nucleotide variant not provided [RCV001956948] Chr6:31948434 [GRCh38]
Chr6:31916211 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1167T>G (p.Asp389Glu) single nucleotide variant not provided [RCV001885994] Chr6:31948960 [GRCh38]
Chr6:31916737 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.2089+5G>C single nucleotide variant not provided [RCV001938788] Chr6:31951478 [GRCh38]
Chr6:31919255 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1696G>T (p.Glu566Ter) single nucleotide variant not provided [RCV002009836] Chr6:31950690 [GRCh38]
Chr6:31918467 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.583C>T (p.Leu195Phe) single nucleotide variant not provided [RCV001978171] Chr6:31947446 [GRCh38]
Chr6:31915223 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.866C>T (p.Ala289Val) single nucleotide variant not provided [RCV002034112] Chr6:31948050 [GRCh38]
Chr6:31915827 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1506+6C>T single nucleotide variant not provided [RCV001905024] Chr6:31950153 [GRCh38]
Chr6:31917930 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.121G>C (p.Gly41Arg) single nucleotide variant not provided [RCV002048483] Chr6:31946429 [GRCh38]
Chr6:31914206 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1043A>T (p.Lys348Met) single nucleotide variant not provided [RCV001977154] Chr6:31948836 [GRCh38]
Chr6:31916613 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1182G>A (p.Met394Ile) single nucleotide variant not provided [RCV001995579] Chr6:31949256 [GRCh38]
Chr6:31917033 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1637G>A (p.Arg546Gln) single nucleotide variant not provided [RCV001864983] Chr6:31950631 [GRCh38]
Chr6:31918408 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1717del (p.Tyr573fs) deletion not provided [RCV002031762] Chr6:31950708 [GRCh38]
Chr6:31918485 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1153A>C (p.Ile385Leu) single nucleotide variant not provided [RCV001875569] Chr6:31948946 [GRCh38]
Chr6:31916723 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.2200G>T (p.Val734Leu) single nucleotide variant not provided [RCV002048135] Chr6:31951935 [GRCh38]
Chr6:31919712 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.677C>T (p.Thr226Ile) single nucleotide variant not provided [RCV001955939] Chr6:31947760 [GRCh38]
Chr6:31915537 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.927T>C (p.Tyr309=) single nucleotide variant not provided [RCV002108060] Chr6:31948403 [GRCh38]
Chr6:31916180 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1749G>A (p.Lys583=) single nucleotide variant not provided [RCV002186388] Chr6:31950743 [GRCh38]
Chr6:31918520 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1845C>T (p.Cys615=) single nucleotide variant not provided [RCV002147037] Chr6:31950934 [GRCh38]
Chr6:31918711 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1341C>T (p.Asp447=) single nucleotide variant not provided [RCV002206278] Chr6:31949490 [GRCh38]
Chr6:31917267 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.39C>T (p.Pro13=) single nucleotide variant not provided [RCV002191442] Chr6:31946260 [GRCh38]
Chr6:31914037 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.2090-13C>G single nucleotide variant not provided [RCV002147723] Chr6:31951542 [GRCh38]
Chr6:31919319 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.299-10C>T single nucleotide variant not provided [RCV002146198] Chr6:31946997 [GRCh38]
Chr6:31914774 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1168+14T>C single nucleotide variant not provided [RCV002190106] Chr6:31948975 [GRCh38]
Chr6:31916752 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1409-10T>C single nucleotide variant not provided [RCV002128385] Chr6:31950040 [GRCh38]
Chr6:31917817 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1856-15A>C single nucleotide variant not provided [RCV002210811] Chr6:31951129 [GRCh38]
Chr6:31918906 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1074C>T (p.Ala358=) single nucleotide variant not provided [RCV002166827] Chr6:31948867 [GRCh38]
Chr6:31916644 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.484+15C>T single nucleotide variant not provided [RCV002188118] Chr6:31947207 [GRCh38]
Chr6:31914984 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.2186A>G (p.Lys729Arg) single nucleotide variant not provided [RCV002090874] Chr6:31951921 [GRCh38]
Chr6:31919698 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.2090-4G>C single nucleotide variant not provided [RCV002088476] Chr6:31951551 [GRCh38]
Chr6:31919328 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.299-11C>G single nucleotide variant not provided [RCV002146490] Chr6:31946996 [GRCh38]
Chr6:31914773 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.658+18C>T single nucleotide variant not provided [RCV002130981] Chr6:31947539 [GRCh38]
Chr6:31915316 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1506+16C>T single nucleotide variant not provided [RCV002086717] Chr6:31950163 [GRCh38]
Chr6:31917940 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1778+8C>T single nucleotide variant not provided [RCV002092907] Chr6:31950780 [GRCh38]
Chr6:31918557 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.837C>G (p.Asp279Glu) single nucleotide variant not provided [RCV002097094] Chr6:31948021 [GRCh38]
Chr6:31915798 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.873G>A (p.Lys291=) single nucleotide variant not provided [RCV002151523] Chr6:31948057 [GRCh38]
Chr6:31915834 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1779-20G>C single nucleotide variant not provided [RCV002213762] Chr6:31950848 [GRCh38]
Chr6:31918625 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1957-28_1957-16del deletion not provided [RCV002206861] Chr6:31951312..31951324 [GRCh38]
Chr6:31919089..31919101 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.468G>A (p.Ala156=) single nucleotide variant not provided [RCV002214605] Chr6:31947176 [GRCh38]
Chr6:31914953 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1106C>T (p.Pro369Leu) single nucleotide variant not provided [RCV002092485] Chr6:31948899 [GRCh38]
Chr6:31916676 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1625-18C>T single nucleotide variant not provided [RCV002134866] Chr6:31950601 [GRCh38]
Chr6:31918378 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.558C>T (p.Ser186=) single nucleotide variant not provided [RCV002080888] Chr6:31947421 [GRCh38]
Chr6:31915198 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1856-14G>A single nucleotide variant not provided [RCV002153857] Chr6:31951130 [GRCh38]
Chr6:31918907 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1627G>A (p.Gly543Arg) single nucleotide variant not provided [RCV002224642] Chr6:31950621 [GRCh38]
Chr6:31918398 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.1408+11A>C single nucleotide variant not provided [RCV002109293] Chr6:31949568 [GRCh38]
Chr6:31917345 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1507-7T>C single nucleotide variant not provided [RCV002149598] Chr6:31950279 [GRCh38]
Chr6:31918056 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1878G>A (p.Gln626=) single nucleotide variant not provided [RCV002174214] Chr6:31951166 [GRCh38]
Chr6:31918943 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1409-18A>G single nucleotide variant not provided [RCV002167700] Chr6:31950032 [GRCh38]
Chr6:31917809 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.299-15C>A single nucleotide variant not provided [RCV002187608] Chr6:31946992 [GRCh38]
Chr6:31914769 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1778+13A>G single nucleotide variant not provided [RCV002131618] Chr6:31950785 [GRCh38]
Chr6:31918562 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1624+11A>G single nucleotide variant not provided [RCV002195168] Chr6:31950414 [GRCh38]
Chr6:31918191 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.549T>C (p.Leu183=) single nucleotide variant not provided [RCV002200104] Chr6:31947412 [GRCh38]
Chr6:31915189 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1938C>T (p.Tyr646=) single nucleotide variant not provided [RCV002136655] Chr6:31951226 [GRCh38]
Chr6:31919003 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1461T>C (p.Gly487=) single nucleotide variant not provided [RCV002198119] Chr6:31950102 [GRCh38]
Chr6:31917879 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.753C>T (p.His251=) single nucleotide variant not provided [RCV002141665] Chr6:31947836 [GRCh38]
Chr6:31915613 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1335G>A (p.Lys445=) single nucleotide variant not provided [RCV002200377] Chr6:31949484 [GRCh38]
Chr6:31917261 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1353T>C (p.His451=) single nucleotide variant not provided [RCV002118187] Chr6:31949502 [GRCh38]
Chr6:31917279 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1974A>G (p.Arg658=) single nucleotide variant not provided [RCV002219351] Chr6:31951358 [GRCh38]
Chr6:31919135 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.711C>G (p.Ser237=) single nucleotide variant not provided [RCV002220386] Chr6:31947794 [GRCh38]
Chr6:31915571 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.299-16del deletion not provided [RCV002180555] Chr6:31946991 [GRCh38]
Chr6:31914768 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.399C>T (p.Asp133=) single nucleotide variant not provided [RCV002121489] Chr6:31947107 [GRCh38]
Chr6:31914884 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.659-11G>T single nucleotide variant not provided [RCV002117901] Chr6:31947731 [GRCh38]
Chr6:31915508 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.1470C>T (p.Tyr490=) single nucleotide variant not provided [RCV002139464] Chr6:31950111 [GRCh38]
Chr6:31917888 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1077C>A (p.Leu359=) single nucleotide variant not provided [RCV002221015] Chr6:31948870 [GRCh38]
Chr6:31916647 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.465A>G (p.Thr155=) single nucleotide variant not provided [RCV002217331] Chr6:31947173 [GRCh38]
Chr6:31914950 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.1482A>G (p.Pro494=) single nucleotide variant not provided [RCV002124092] Chr6:31950123 [GRCh38]
Chr6:31917900 [GRCh37]
Chr6:6p21.33
benign
NM_001710.6(CFB):c.485-18T>C single nucleotide variant not provided [RCV002204019] Chr6:31947330 [GRCh38]
Chr6:31915107 [GRCh37]
Chr6:6p21.33
likely benign
NM_001710.6(CFB):c.322G>A (p.Asp108Asn) single nucleotide variant not provided [RCV002261777] Chr6:31947030 [GRCh38]
Chr6:31914807 [GRCh37]
Chr6:6p21.33
uncertain significance
NM_001710.6(CFB):c.2199G>C (p.Gln733His) single nucleotide variant not provided [RCV002261778] Chr6:31951934 [GRCh38]
Chr6:31919711 [GRCh37]
Chr6:6p21.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1037 AgrOrtholog
COSMIC CFB COSMIC
Ensembl Genes ENSG00000204359 UniProtKB/TrEMBL
  ENSG00000239754 UniProtKB/Swiss-Prot
  ENSG00000241253 UniProtKB/Swiss-Prot
  ENSG00000241534 UniProtKB/Swiss-Prot
  ENSG00000242335 UniProtKB/Swiss-Prot
  ENSG00000243570 UniProtKB/Swiss-Prot
  ENSG00000243649 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000364592.3 UniProtKB/TrEMBL
  ENSP00000364604.3 UniProtKB/TrEMBL
  ENSP00000382862.1 UniProtKB/Swiss-Prot
  ENSP00000388352.2 UniProtKB/Swiss-Prot
  ENSP00000389604.2 UniProtKB/Swiss-Prot
  ENSP00000391902.2 UniProtKB/Swiss-Prot
  ENSP00000401719.1 UniProtKB/Swiss-Prot
  ENSP00000411474.2 UniProtKB/Swiss-Prot
  ENSP00000411515.2 UniProtKB/Swiss-Prot
  ENSP00000413351.1 UniProtKB/Swiss-Prot
  ENSP00000414341.1 UniProtKB/Swiss-Prot
  ENSP00000414889.1 UniProtKB/Swiss-Prot
  ENSP00000416561 ENTREZGENE
  ENSP00000416561.2 UniProtKB/Swiss-Prot
  ENSP00000417793.1 UniProtKB/TrEMBL
  ENSP00000418833.1 UniProtKB/TrEMBL
  ENSP00000419887.1 UniProtKB/TrEMBL
  ENSP00000420090.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000375443.3 UniProtKB/TrEMBL
  ENST00000375455.7 UniProtKB/TrEMBL
  ENST00000399981.5 UniProtKB/Swiss-Prot
  ENST00000417261.5 UniProtKB/Swiss-Prot
  ENST00000419411.6 UniProtKB/Swiss-Prot
  ENST00000419920.2 UniProtKB/Swiss-Prot
  ENST00000424727.5 UniProtKB/Swiss-Prot
  ENST00000425368 ENTREZGENE
  ENST00000425368.7 UniProtKB/Swiss-Prot
  ENST00000426239.1 UniProtKB/Swiss-Prot
  ENST00000427888.2 UniProtKB/Swiss-Prot
  ENST00000433503.2 UniProtKB/Swiss-Prot
  ENST00000436692.2 UniProtKB/Swiss-Prot
  ENST00000455591.5 UniProtKB/Swiss-Prot
  ENST00000460718.5 UniProtKB/TrEMBL
  ENST00000475617.5 UniProtKB/TrEMBL
  ENST00000483004.1 UniProtKB/TrEMBL
  ENST00000498317.1 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/TrEMBL
  3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000204359 GTEx
  ENSG00000239754 GTEx
  ENSG00000241253 GTEx
  ENSG00000241534 GTEx
  ENSG00000242335 GTEx
  ENSG00000243570 GTEx
  ENSG00000243649 GTEx
HGNC ID HGNC:1037 ENTREZGENE
Human Proteome Map CFB Human Proteome Map
InterPro Compl_C2_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:629 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 629 ENTREZGENE
OMIM 138470 OMIM
  612924 OMIM
  615489 OMIM
  615561 OMIM
PANTHER PTHR46393 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46393:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25341 PharmGKB
PIRSF Compl_C2_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JH38_HUMAN UniProtKB/TrEMBL
  A0A1U9X7H8 ENTREZGENE, UniProtKB/TrEMBL
  C9JRT3_HUMAN UniProtKB/TrEMBL
  CFAB_HUMAN UniProtKB/Swiss-Prot
  F8WBL9_HUMAN UniProtKB/TrEMBL
  H7C526_HUMAN UniProtKB/TrEMBL
  H7C5H1_HUMAN UniProtKB/TrEMBL
  P00751 ENTREZGENE
  Q9BX92 ENTREZGENE
  W8VT81_HUMAN UniProtKB/TrEMBL
UniProt Secondary B0QZQ6 UniProtKB/Swiss-Prot
  O15006 UniProtKB/Swiss-Prot
  Q29944 UniProtKB/Swiss-Prot
  Q53F89 UniProtKB/Swiss-Prot
  Q5JP67 UniProtKB/Swiss-Prot
  Q5ST50 UniProtKB/Swiss-Prot
  Q96HX6 UniProtKB/Swiss-Prot
  Q9BTF5 UniProtKB/Swiss-Prot
  Q9BX92 UniProtKB/Swiss-Prot