MYO1G NM_033054.3:c.145G A

Preferred Label : MYO1G NM_033054.3:c.145G A;

NCIt synonyms : NM_033054.3:c.145G A; HLA-HA2 c.145G A; Myosin IG c.145G A; HA-2 Negative Variant; MHAG c.145G A; HA-2 Negative Gene Variant; HA-2 c.145G A; MYO1G c.145G A; HA2 c.145G A;

NCIt definition : A nucleotide substitution at position 145 of the coding sequence of the MYO1G gene where guanine has been mutated to adenine.;

NCIt note : This nucleotide substitution encodes a protein variant that does not allow antigen presenting cells to display the MHC class I HLA-A*0201 restricted HA-2 antigenic peptide. (J Immunol. 2001;167:3223-30.);

NCI Metathesaurus CUI : CL1799363;

SNP ID : rs61739531;

PubMed : 11544309;

Details

Origin ID

C190723;

UMLS CUI

C5780990;

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
- MYO1G Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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