HSD3B1 NM_000862.2:c.1100

Preferred Label : HSD3B1 NM_000862.2:c.1100 ;

NCIt synonyms : HSD3B1 (1245C) Mutation; HSD3B c.1100 ; HSD3B1 (1245A C); HSD3B1 c.1100C ; HSD3B1 1245A C; HSDB3A c.1100 ; HSDB3 c.1100 ; SDR11E1 c.1100 ; Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- and Steroid Delta-Isomerase 1 c.1100 ; HSD3B1 (1245C); NM_000862.2:c.1100 ; HSD3B1 1245C; HSD3B1(1245C); 3BETAHSD c.1100 ;

NCIt definition : A nucleotide substitution at position 1100 of the coding sequence of the HSD3B1 gene where adenine has been mutated to cytosine.;

NCIt note : For the HSD3B1 gene, adenine at position 1100 is the most frequent allele across all demographics; however, the RefSeq genomic sequence (NM_000862.2; GRCh38.p13) has cytosine at position 1100.;

NCI Metathesaurus CUI : CL1772603;

SNP ID : rs1047303;

Details

Origin ID

C184298;

UMLS CUI

C5669187;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- HSD3B1 Gene [NCIt concept]

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