Variant (rsID / SNP)

rs386134262

rs386134262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR0B1. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

NR0B1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp21.2
HGVS: NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro)
Allele change: Missense_L365P

Associated conditions / phenotypes

Congenital adrenal hypoplasia, X-linked

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.