NF1 NM_001042492.2:c.4394A G

Preferred Label : NF1 NM_001042492.2:c.4394A G;

NCIt synonyms : NF1 c.4394A G; NM_001042492.2:c.4394A G; NFNS c.4394A G; Neurofibromin 1 c.4394A G;

NCIt definition : A nucleotide substitution at position 4394 of the coding sequence of the NF1 gene where adenine has been mutated to guanine.;

NCI Metathesaurus CUI : CL972049;

SNP ID : rs786202492;

Details

Origin ID

C167059;

UMLS CUI

C5238228;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
molecular_abnormality_involves_gene
- NF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients