Variant (rsID / SNP)
rs184492796
rs184492796 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD17B4. Location: chromosome 5, position 118,860,973. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HSD17B4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:118860973
- Cytoband
- 5q23.1
- HGVS
- NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)
- Allele change
- Missense_S498R
Associated conditions / phenotypes
Bifunctional peroxisomal enzyme deficiency|Perrault syndrome 1|Perrault syndrome|Bifunctional peroxisomal enzyme deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.