Preferred Label : PTCH1 NM_000264.4:c.3583A T;
NCIt synonyms : PTC c.3583A T; PTCH1 c.3583A T; PTCH c.3583A T; NM_000264.4:c.3583A T; PTC1 c.3583A T; Patched Homolog 1 c.3583A T; Patched 1 c.3583A T;
NCIt definition : A nucleotide substitution at position 3583 of the coding sequence of the PTCH1 gene
where adenine has been mutated to thymine.;
NCI Metathesaurus CUI : CL1378829;
SNP ID : rs2236405;
Origin ID : C169018;
UMLS CUI : C5239312;
Semantic type(s)
molecular_abnormality_involves_gene