NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34767364
rs34767364
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
0.740 GeneticVariation BEFREE Patients with NBS compound heterozygous for the 657del5 hypomorphic mutation and for the Arg215Trp missense mutation (corresponding to the 643C>T gene mutation) display a clinical phenotype more severe than that of patients homozygous for the 657del5 mutation. 22941933 2012
dbSNP: rs34767364
rs34767364
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
0.740 GeneticVariation BEFREE Present data represent the first evidence for the role of NBS1 tandem BRCT domains in gamma-H2AX recognition, and could explain the severe phenotype observed in 657del5/R215W NBS patients. 18328813 2008
dbSNP: rs34767364
rs34767364
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
0.740 GeneticVariation BEFREE The combined data are in line with an about 3-fold increase in breast cancer risk for female NBS heterozygotes (OR 3.1; 95%CI 1.4-6.6) and indicate that the 657del5 deletion and perhaps the R</span>215W substitution contribute to inherited breast cancer susceptibility in Central and Eastern Europe. 17957789 2008
dbSNP: rs34767364
rs34767364
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
0.740 GeneticVariation BEFREE Here, we describe for the first time a severe form of NBS without chromosomal instability in monozygotic twin brothers with profound congenital microcephaly and developmental delay who are compound heterozygotes for the 657del5 and 643C>T(R215W) NBS1 mutations. 16033915 2006
dbSNP: rs34767364
rs34767364
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.740 CausalMutation CLINVAR
dbSNP: rs61754966
rs61754966
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0002874
Disease:
Aplastic Anemia
0.720 GeneticVariation BEFREE In earlier work, we had identified a remarkable number of structural chromosomal aberrations in a patient with pediatric aplastic anemia with a homozygous polymorphic variant of NBS1-I171V; however, it was unclear whether this variant affected DSB repair activity or chromosomal instability. 24830725 2014
dbSNP: rs61754966
rs61754966
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.720 GeneticVariation BEFREE A rare polymorphic variant of NBS1 that resulted in an isoleucine to valine substitution at amino acid position 171 (I171V) was first identified in childhood acute lymphoblastic leukemia. 24830725 2014
dbSNP: rs61754966
rs61754966
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.720 GeneticVariation BEFREE In our previous study we showed that the germline p.I171V mutation in NBN may be considered as a risk factor in the development of childhood acute lymphoblastic leukemia (ALL) and some specific haplotypes of that gene may be associated with childhood leukemia. 24093751 2013
dbSNP: rs61754966
rs61754966
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0002874
Disease:
Aplastic Anemia
0.720 GeneticVariation BEFREE This is the first report of AA with a homozygous I171V mutation. 15338273 2004
dbSNP: rs61754966
rs61754966
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0002874
Disease:
Aplastic Anemia
C 0.720 CausalMutation CLINVAR
dbSNP: rs61754966
rs61754966
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.720 GeneticVariation UNIPROT
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
0.710 GeneticVariation BEFREE The vast majority of patients with Nijmegen Breakage Syndrome (NBS) are of Slavic origin and carry a deleterious deletion (c.657del5; rs587776650) in the NBN gene on chromosome 8q21. 27936167 2016
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.710 CausalMutation CLINVAR Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies. 24113799 2013
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.710 CausalMutation CLINVAR Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation. 22941933 2012
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.710 CausalMutation CLINVAR Impact of heterozygous c.657-661del, p.I171V and p.R215W mutations in NBN on nibrin functions. 22131123 2012
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.710 CausalMutation CLINVAR Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition. 22293976 2012
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.710 CausalMutation CLINVAR High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study. 20444919 2010
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.710 CausalMutation CLINVAR Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients. 19908051 2010
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.710 CausalMutation CLINVAR Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome. 19635536 2009
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.710 CausalMutation CLINVAR The importance of making ends meet: mutations in genes and altered expression of proteins of the MRN complex and cancer. 18606567 2008
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.710 CausalMutation CLINVAR Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. 16033915 2006
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.710 CausalMutation CLINVAR Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. 16544999 2006
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.710 CausalMutation CLINVAR NBS1 is a prostate cancer susceptibility gene. 14973119 2004
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.710 CausalMutation CLINVAR Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. 15185344 2004
dbSNP: rs587776650
rs587776650
Entrez Id: 4683
Gene Symbol: NBN
NBN
CUI: C0398791
Disease:
Nijmegen Breakage Syndrome
A 0.710 CausalMutation CLINVAR Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families. 11953735 2002