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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

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