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C184298Level 6

HSD3B1 NM_000862.2:c.1100=

**Semantic type:** Cell or Molecular Dysfunction

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

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

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