PTCH1 NM_000264.4:c.3583A T

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;

Détails

Origin ID

C169018;

UMLS CUI

C5239312;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
molecular_abnormality_involves_gene
- PTCH1 Gene [NCIt concept]

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