Variant (rsID / SNP)

rs28943588

rs28943588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD17B4. Location: chromosome 5, position 118,810,143. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HSD17B4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:118810143
Cytoband: 5q23.1
HGVS: NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu)
Allele change: Missense_F66L

Associated conditions / phenotypes

Perrault syndrome 1|Bifunctional peroxisomal enzyme deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.