Gene entry

HSD3B7

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

Chromosome: 16
Cytoband: 16p11.2
Variants (rsID): 2

HSD3B7 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p11.2). Its official name is “hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7”. The reference table lists 2 variants (rsID) for this gene.

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Clinically classified variants

2 reference-table entries with clinical significance.

rs9938550Benignsingle nucleotide variantCongenital bile acid synthesis defect 1
rs104894518Pathogenicsingle nucleotide variantCongenital bile acid synthesis defect 1

Public references

NCBI Gene
Ensembl
ClinVar

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.