Variant (rsID / SNP)

rs119481078

rs119481078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD17B3. Location: chromosome 9, position 99,060,733. Clinical significance in the table: Pathogenic.

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Reference-table entries

HSD17B3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:99060733
Cytoband: 9q22.32
HGVS: NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr)
Allele change: Missense_A56T

Associated conditions / phenotypes

Testosterone 17-beta-dehydrogenase 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.