Variant (rsID / SNP)

rs192604242

rs192604242 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SRD5A2. Location: chromosome 2, position 31,751,175. Clinical significance in the table: Benign.

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Reference-table entries

SRD5A2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:31751175
Cytoband: 2p23.1
HGVS: NM_000348.4(SRD5A2):c.*91C>T
Allele change: Silent

Associated conditions / phenotypes

3-Oxo-5 alpha-steroid delta 4-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.