Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs9332966

SRD5A2

rs9332966 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SRD5A2. Location: chromosome 2, position 31,751,329. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SRD5A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:31751329
Cytoband
2p23.1
HGVS
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu)
Allele change
Missense_S234C

Associated conditions / phenotypes

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.