Preferred Label : HA-2 Genotype Positive;
NCIt synonyms : MYO1G(V/M) or (V/V); MYO1G(V) Positive; HA-2 /- or HA-2 / Positive; HA2 Genotype Positive; HA2 /- or HA2 / ; HA-2 Positive; HA2 /- or HA2 / Positive; HA2 Positive; HA-2 /- or HA-2 / ; MYO1G(V) Genotype Positive; Minor Histocompatibility Antigen HA-2 Genotype Positive; MYO1G(V/M) or (V/V) Positive;
NCIt definition : A genetic finding indicating that a subject expresses the HA-2 genotype, which is
defined as either homozygous or heterozygous expression of guanine at position 145
of the MYO1G gene, which encodes valine at amino acid residue 49 MYO1G(V). The MYO1G(V)
form of unconventional myosin-Ig protein can be processed into a nonapeptide that
can be presented by antigen expressing cells and recognized by HLA-A*0201 (HA-2 ),
while a variant MYO1G gene with adenine at position 145, which encodes a methionine
at amino acid residue 49 (MYO1G(M)) does not produce a peptide that can be displayed
by antigen presenting cells (HA-2-).;
NCI Metathesaurus CUI : CL1799392;
Origin ID : C190700;
UMLS CUI : C5783868;
Semantic type(s)
- concept_is_in_subset
- related_to_genetic_biomarker
