Preferred Label : HA-1(H) Genotype Positive;
NCIt synonyms : HA-1(H) Positive; rs1801284 A/G or A/A Present; rs1801284 A/G, A/A Positive; rs1801284 A/G, A/A Present; HA-1(H/H) or HA-1(H/R) Positive; rs1801284 A/G or A/A Positive; HA-1(H) Genotype (rs1801284 A/G, A/A) Positive;
NCIt definition : A genetic finding indicating that a subject expresses the HA-1(H) genotype and has
a homozygous or heterozygous nucleotide substitution at position 416 of the ARHGAP45
gene where the guanine has been mutated to adenine, which encodes a variant of Rho
GTPase-activating protein 45 where the arginine at position 139 has been replaced
by histidine. The HA-1(H) form of ARHGAP45 protein can be processed into a nonapeptide
that can be presented by HLA-A*0201 and other HLA-A isoforms, while the peptide produced
by processing the protein resulting from transcription of the ARHGAP45 gene with guanine
at position 416, which will have arginine at amino acid residue 139 (HA-1(R)) cannot
bind HLA-A.;
NCI Metathesaurus CUI : CL937235;
Origin ID : C157564;
UMLS CUI : C4763705;
Semantic type(s)
- concept_is_in_subset
- related_to_genetic_biomarker
