C167062Level 5
NF1 NP_001035957.1:p.S2309Cfs*10
**Semantic type:** Cell or Molecular Dysfunction
**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.
**Synonyms:** - NF1 NP_001035957.1:p.Ser2309CysfsTer10 - NF1 S2309Cfs*10 - NF1 Ser2309CysfsTer10 - NF1 p.S2309Cfs*10 - NF1 p.Ser2309CysfsTer10 - NP_001035957.1:p.S2309Cfs*10 - NP_001035957.1:p.Ser2309CysfsTer10 - Neurofibromatosis-Related Protein NF-1 Ser2309CysfsTer10 - Neurofibromatosis-Related Protein NF-1 p.S2309Cfs*10 - Neurofibromin S2309Cfs*10 - Neurofibromin Ser2309CysfsTer10
GET
/api/v1/systems/nci_thesaurus/nodes/C167062Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.