NF1 NP_001035957.1:p.S2309Cfs*10

Preferred Label : NF1 NP_001035957.1:p.S2309Cfs*10;

NCIt synonyms : Neurofibromatosis-Related Protein NF-1 Ser2309CysfsTer10; NF1 S2309Cfs*10; NF1 NP_001035957.1:p.Ser2309CysfsTer10; NF1 p.S2309Cfs*10; Neurofibromin Ser2309CysfsTer10; NF1 Ser2309CysfsTer10; NF1 p.Ser2309CysfsTer10; NP_001035957.1:p.S2309Cfs*10; Neurofibromatosis-Related Protein NF-1 p.S2309Cfs*10; Neurofibromin S2309Cfs*10; NP_001035957.1:p.Ser2309CysfsTer10;

NCIt definition : A change in the amino acid composition of the neurofibromin protein where a frameshift mutation results in the substitution of the serine at postion 2093 with a cysteine and 9 non-canonic amino acids followed by a stop codon.;

NCI Metathesaurus CUI : CL972054;

PubMed : 31026031;

Details

Origin ID

C167062;

UMLS CUI

C5238231;

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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