NF1 NP_001035957.1:p.N1465S

Preferred Label : NF1 NP_001035957.1:p.N1465S;

NCIt synonyms : Neurofibromin Asn1465Ser; Neurofibromin N1465S; NF1 NP_001035957.1:p.Asn1465Ser; Neurofibromatosis-Related Protein NF-1 Asn1465Ser; Neurofibromatosis-Related Protein NF-1 N1465S; NP_001035957.1:p.Asn1465Ser; NP_001035957.1:p.N1465S; NF1 p.Asn1465Ser; NF1 p.N1465S; NF1 Asn1465Ser; NF1 N1465S;

NCIt definition : A change in the amino acid residue at position 1465 in the neurofibromin protein where asparagine has been replaced by serine.;

NCI Metathesaurus CUI : CL972052;

PubMed : 31026031;

Details

Origin ID

C167060;

UMLS CUI

C5238229;

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

Keyword's position in hierarchy(ies) :

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