Gene entry
HSD17B4
hydroxysteroid 17-beta dehydrogenase 4
- Chromosome
- 5
- Cytoband
- 5q23.1
- Variants (rsID)
- 24
HSD17B4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q23.1). Its official name is “hydroxysteroid 17-beta dehydrogenase 4”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs111671384Benignsingle nucleotide variantBifunctional peroxisomal enzyme deficiency|Perrault syndrome 1
- rs150677536Benignsingle nucleotide variantBifunctional peroxisomal enzyme deficiency|Perrault syndrome 1|Bifunctional peroxisomal enzyme deficiency|Perrault syndrome
- rs184492796Conflicting interpretationssingle nucleotide variantBifunctional peroxisomal enzyme deficiency|Perrault syndrome 1|Perrault syndrome|Bifunctional peroxisomal enzyme deficiency
- rs73790880Conflicting interpretationssingle nucleotide variantBifunctional peroxisomal enzyme deficiency|Perrault syndrome|Bifunctional peroxisomal enzyme deficiency
- rs368744809Othersingle nucleotide variantD-Bifunctional Protein Deficiency
- rs137853097Pathogenicsingle nucleotide variantBifunctional peroxisomal enzyme deficiency|Bifunctional peroxisomal enzyme deficiency|Perrault syndrome 1|Bifunctional peroxisomal enzyme deficiency|Perrault syndrome
- rs25640Pathogenicsingle nucleotide variantBifunctional peroxisomal enzyme deficiency
- rs28943588Uncertain significancesingle nucleotide variantPerrault syndrome 1|Bifunctional peroxisomal enzyme deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.