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: rs864622639
rs864622639
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. 25293717 2015
dbSNP: rs864622639
rs864622639
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR [Phenotypic and genetic features in neurofibromatosis type 1 in children]. 25541118 2015
dbSNP: rs864622639
rs864622639
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing. 24789688 2014
dbSNP: rs864622639
rs864622639
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: rs864622639
rs864622639
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. 12807981 2003
dbSNP: rs864622639
rs864622639
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. 10862084 2000
dbSNP: rs864622639
rs864622639
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene. 8081387 1994