CHD6 NP_115597.3:p.I1600M

Preferred Label : CHD6 NP_115597.3:p.I1600M;

NCIt synonyms : CHD-6 Ile1600Met; NP_115597.3:p.Ile1600Met; Chromodomain-Helicase-DNA-Binding Protein 6 I1600M; CHD6 NP_115597.3:p.Ile1600Met; NP_115597.3:p.I1600M; CHD-6 I1600M; ATP-Dependent Helicase CHD6 Ile1600Met; Radiation-Induced Gene B Protein Ile1600Met; CHD6 p.Ile1600Met; CHD6 Ile1600Met; ATP-Dependent Helicase CHD6 I1600M; Radiation-Induced Gene B Protein I1600M; CHD6 p.I1600M; CHD6 I1600M; Chromodomain-Helicase-DNA-Binding Protein 6 Ile1600Met;

NCIt definition : A change in the amino acid residue at position 1600 in the chromodomain-helicase-DNA-binding protein 6 where isoleucine has been replaced by methionine.;

NCIt note : This amino acid substitution may be associated with Hallermann-Streiff syndrome (HSS). (Nature Commun. 2021. 12:https://doi.org/10.1038/s41467-021-23327-1.);

NCI Metathesaurus CUI : CL1662781;

Details

Origin ID

C180394;

UMLS CUI

C5556336;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_variant_of_gene_product
- Chromodomain-Helicase-DNA-Binding Protein 6 [NCIt concept]
molecular_abnormality_involves_gene
- CHD6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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