NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041347
rs886041347
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0028326
Disease:
Noonan Syndrome 		0.020 GeneticVariation BEFREE A non-sense mutation C2446T --> R816X of the neurofibromin gene has been detected in some patients with the neurofibromatosis 1-Noonan's syndrome phenotype. 12661943 2003
dbSNP: rs886041347
rs886041347
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0028326
Disease:
Noonan Syndrome 		0.020 GeneticVariation BEFREE R816X creates a recognition site for endonuclease HphI, absent in 2 individuals with NS only. 9475595 1998
dbSNP: rs768366978
rs768366978
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0028326
Disease:
Noonan Syndrome 		0.010 GeneticVariation BEFREE Sequence analysis of the established genes for Noonan syndrome revealed no mutation; a heterozygous NF1 point mutation c.7549C>T in exon 51, creating a premature stop codon (p.R2517X), had been demonstrated. 22965773 2012
dbSNP: rs866445127
rs866445127
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0028326
Disease:
Noonan Syndrome 		0.010 GeneticVariation BEFREE Sequence analysis of the established genes for Noonan syndrome revealed no mutation; a heterozygous NF1 point mutation c.7549C>T in exon 51, creating a premature stop codon (p.R2517X), had been demonstrated. 22965773 2012