Variant (rsID / SNP)

rs80358220

rs80358220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD3B2. Location: chromosome 1, position 119,964,788. Clinical significance in the table: Pathogenic.

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Reference-table entries

HSD3B2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:119964788
Cytoband: 1p12
HGVS: NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr)
Allele change: Missense_P222T

Associated conditions / phenotypes

3 beta-Hydroxysteroid dehydrogenase deficiency|Congenital adrenal hyperplasia

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.