Variant (rsID / SNP)

rs104894890

rs104894890 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NR0B1. Clinical significance in the table: Pathogenic.

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Reference-table entries

NR0B1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp21.2
HGVS: NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter)
Allele change: Nonsense_Q283X

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.