Variant (rsID / SNP)

rs25640

rs25640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD17B4. Location: chromosome 5, position 118,811,533. Clinical significance in the table: Pathogenic.

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Reference-table entries

HSD17B4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:118811533
Cytoband: 5q23.1
HGVS: NM_000414.4(HSD17B4):c.317G>C (p.Arg106Pro)
Allele change: Missense_R82H

Associated conditions / phenotypes

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.