Variant (rsID / SNP)

rs150677536

rs150677536 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD17B4. Location: chromosome 5, position 118,824,930. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HSD17B4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:118824930
Cytoband: 5q23.1
HGVS: NM_000414.4(HSD17B4):c.666C>G (p.Val222=)
Allele change: Synonymous_V198V

Associated conditions / phenotypes

Bifunctional peroxisomal enzyme deficiency|Perrault syndrome 1|Bifunctional peroxisomal enzyme deficiency|Perrault syndrome

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.