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Variant (rsID / SNP)

rs368744809

HSD17B4

rs368744809 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD17B4. Location: chromosome 5, position 118,829,592. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

HSD17B4Other
Clinical significance (as recorded)
no interpretation for the single variant
Variant type
single nucleotide variant
Chromosome / position
5:118829592
Cytoband
5q23.1
HGVS
NM_000414.4(HSD17B4):c.819G>T (p.Trp273Cys)
Allele change
Missense_W249C

Associated conditions / phenotypes

D-Bifunctional Protein Deficiency

Public references

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