Variant (rsID / SNP)

rs119481079

rs119481079 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD17B3. Location: chromosome 9, position 99,013,764. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HSD17B3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:99013764
Cytoband: 9q22.32
HGVS: NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser)
Allele change: Missense_N130S

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.