NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: neurofibroma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786202782
rs786202782
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027830
Disease:
neurofibroma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs797045139
rs797045139
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027830
Disease:
neurofibroma 		0.010 GeneticVariation BEFREE p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. 25370043 2015
dbSNP: rs786202457
rs786202457
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027830
Disease:
neurofibroma 		0.010 GeneticVariation BEFREE A mosaic mutation (R2429X) was also identified in a neurofibroma by DHPLC analysis and cloning/sequencing. 14722917 2004