Preferred Label : SIX1 NP_005973.1:p.Q177R;
NCIt synonyms : Sine Oculis Homeobox Homolog 1 Gln177Arg; Sine Oculis Homeobox Homolog 1 Q177R; NP_005973.1:p.Gln177Arg; NP_005973.1:p.Q177R; SIX1 Gln177Arg; Homeobox Protein SIX1 Gln177Arg; SIX1 p.Gln177Arg; SIX1 Q177R; Homeobox Protein SIX1 Q177R; SIX1 p.Q177R; SIX1 NP_005973.1:p.Gln177Arg; SIX1 177 Q/R Hotspot Mutation;
NCIt definition : A change in the amino acid residue at position 177 in homeobox protein SIX1 where
glutamine has been replaced by arginine.;
NCI Metathesaurus CUI : CL1793722;
Origin ID : C188673;
UMLS CUI : C5707969;
Semantic type(s)
gene_product_variant_of_gene_product
molecular_abnormality_involves_gene