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Variant (rsID / SNP)

rs73790880

HSD17B4

rs73790880 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD17B4. Location: chromosome 5, position 118,861,708. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HSD17B4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:118861708
Cytoband
5q23.1
HGVS
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met)
Allele change
Missense_K533M

Associated conditions / phenotypes

Bifunctional peroxisomal enzyme deficiency|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.