GNAS NM_000516.5:c.478C>T

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A nucleotide substitution at position 478 of the coding sequence of the GNAS gene where cytosine has been mutated to thymine.

**Synonyms:** - GNAS Complex Locus Gene c.478C>T - GNAS c.478C>T - GNAS1 c.478C>T - GSA c.478C>T - GSP c.478C>T - NM_000516.5:c.478C>T