PTCH1 NM_000264.5:c.2532G>C

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A nucleotide substitution at position 2532 of the coding sequence of the PTCH1 gene where guanine has been mutated to cytosine.

**Synonyms:** - NM_000264.5:c.2532G>C - PTC c.2532G>C - PTC1 c.2532G>C - PTCH c.2532G>C - PTCH1 c.2532G>C - Patched 1 c.2532G>C - Patched Homolog 1 c.2532G>C