Variant (rsID / SNP)
rs1057868
rs1057868 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POR. Location: chromosome 7, position 75,615,006. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
PORBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:75615006
- Cytoband
- 7q11.23
- HGVS
- NM_001395413.1(POR):c.1499C>T (p.Ala500Val)
- Allele change
- Missense_A503V
Associated conditions / phenotypes
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.