NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691092
rs1131691092
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. 22155606 2011
dbSNP: rs1131691092
rs1131691092
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH. 21031597 2011
dbSNP: rs1131691092
rs1131691092
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366 2008
dbSNP: rs1131691092
rs1131691092
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing. 18041031 2007
dbSNP: rs1131691092
rs1131691092
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1. 16138229 2005
dbSNP: rs1131691092
rs1131691092
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. 10712197 2000