C192792Level 6
HSD3B1 NM_000862.2:c.1100C>A
**Semantic type:** Cell or Molecular Dysfunction
**Definition:** A nucleotide substitution at position 1100 of the coding sequence of the HSD3B1 gene where cytosine has been mutated to adenine.
**Synonyms:** - 3BETAHSD c.1100C>A - HSD3B c.1100C>A - HSD3B1 (1245A) - HSD3B1 1245A - HSD3B1 c.1100C>A - HSD3B1(1245A) - HSDB3 c.1100C>A - HSDB3A c.1100C>A - Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- and Steroid Delta-Isomerase 1 c.1100C>A - NM_000862.2:c.1100C>A - SDR11E1 c.1100C>A
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