Variant (rsID / SNP)
rs137853097
rs137853097 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD17B4. Location: chromosome 5, position 118,844,871. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
HSD17B4Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:118844871
- Cytoband
- 5q23.1
- HGVS
- NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
- Allele change
- Missense_N433Y
Associated conditions / phenotypes
Bifunctional peroxisomal enzyme deficiency|Bifunctional peroxisomal enzyme deficiency|Perrault syndrome 1|Bifunctional peroxisomal enzyme deficiency|Perrault syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.