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C205197Level 6

PTCH1 NM_000264.5:c.2532G>T

**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 thymine.

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

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