Variant (rsID / SNP)

rs111671384

rs111671384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD17B4. Location: chromosome 5, position 118,877,695. Clinical significance in the table: Benign.

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Reference-table entries

HSD17B4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:118877695
Cytoband: 5q23.1
HGVS: NM_000414.4(HSD17B4):c.*6A>G
Allele change: Silent

Associated conditions / phenotypes

Bifunctional peroxisomal enzyme deficiency|Perrault syndrome 1

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.