Variant (rsID / SNP)
rs28383064
rs28383064 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SRD5A2. Location: chromosome 2, position 31,754,481. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SRD5A2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:31754481
- Cytoband
- 2p23.1
- HGVS
- NM_000348.4(SRD5A2):c.594C>T (p.Ile198=)
- Allele change
- Missense_S198L
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.