Preferred Label : HSD3B1 NM_000862.2:c.1100C A;
NCIt synonyms : HSDB3A c.1100C A; Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- and Steroid Delta-Isomerase 1 c.1100C
A; HSD3B c.1100C A; HSDB3 c.1100C A; SDR11E1 c.1100C A; HSD3B1(1245A); 3BETAHSD c.1100C A; HSD3B1 (1245A); HSD3B1 c.1100C A; HSD3B1 1245A; NM_000862.2:c.1100C A;
NCIt definition : A nucleotide substitution at position 1100 of the coding sequence of the HSD3B1 gene
where cytosine has been mutated to adenine.;
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 : CL1912853;
SNP ID : rs1047303;
Origin ID : C192792;
UMLS CUI : C5785415;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene