Preferred Label : PTCH1 NM_000264.5:c.2532G C;
NCIt synonyms : NM_000264.5:c.2532G C; PTC1 c.2532G C; Patched Homolog 1 c.2532G C; Patched 1 c.2532G C; PTC c.2532G C; PTCH1 c.2532G C; PTCH c.2532G C;
NCIt definition : A nucleotide substitution at position 2532 of the coding sequence of the PTCH1 gene
where guanine has been mutated to cytosine.;
NCI Metathesaurus CUI : CL1927237;
SNP ID : rs1840077192;
Origin ID : C205198;
concept_is_in_subset
molecular_abnormality_involves_gene