Variant (rsID / SNP)

rs386134263

rs386134263 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR0B1. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NR0B1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp21.2
HGVS: NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)
Allele change: Missense_L381F

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.