SIX1 NM_005982.4:c.530A G

Preferred Label : SIX1 NM_005982.4:c.530A G;

NCIt synonyms : DFNA23 c.530A G; SIX1 c.530A G; BOS3 c.530A G; SIX Homeobox 1 c.530A G; NM_005982.4:c.530A G; TIP39 c.530A G; Sine Oculis Homeobox Homolog 1 c.530A G;

NCIt definition : A nucleotide substitution at position 530 of the coding sequence of the SIX1 gene where adenine has been mutated to guanine.;

NCI Metathesaurus CUI : CL1793732;

Détails

Origin ID

C188671;

UMLS CUI

C5707967;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
molecular_abnormality_involves_gene
- SIX1 Gene [NCIt concept]

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