C167059Level 6
NF1 NM_001042492.2:c.4394A>G
**Semantic type:** Cell or Molecular Dysfunction
**Definition:** A nucleotide substitution at position 4394 of the coding sequence of the NF1 gene where adenine has been mutated to guanine.
**Synonyms:** - NF1 c.4394A>G - NFNS c.4394A>G - NM_001042492.2:c.4394A>G - Neurofibromin 1 c.4394A>G
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Cross-system equivalences0
No cross-system equivalences mapped for this node.