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Variant (rsID / SNP)

rs145712014

SRD5A2

rs145712014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SRD5A2. Location: chromosome 2, position 31,751,297. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SRD5A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:31751297
Cytoband
2p23.1
HGVS
NM_000348.4(SRD5A2):c.734C>A (p.Ser245Tyr)
Allele change
Missense_L245I

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.