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Variant (rsID / SNP)

rs9332964

SRD5A2

rs9332964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SRD5A2. Location: chromosome 2, position 31,754,395. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SRD5A2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:31754395
Cytoband
2p23.1
HGVS
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
Allele change
Missense_E227K

Associated conditions / phenotypes

Micropenis|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.