TP53 NM_000546.5:c.394A G

Preferred Label : TP53 NM_000546.5:c.394A G;

NCIt synonyms : TP53 c.394A G; LFS1 c.394A G; NM_000546.5:c.394A G; Li-Fraumeni Syndrome c.394A G; P53 c.394A G; Tumor Protein p53 c.394A G;

NCIt definition : A nucleotide substitution at position 394 of the coding sequence of the TP53 gene where alanine has been mutated to guanine.;

NCI Metathesaurus CUI : CL1407815;

SNP ID : rs747342068;

Details

Origin ID

C174158;

UMLS CUI

C5420620;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- TP53 Gene [NCIt concept]

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