Variant (rsID / SNP)
rs72552772
rs72552772 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POR. Location: chromosome 7, position 75,615,483. Clinical significance in the table: Pathogenic.
Reference-table entries
PORPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:75615483
- Cytoband
- 7q11.23
- HGVS
- NM_001395413.1(POR):c.1813G>T (p.Val605Phe)
- Allele change
- Missense_V608F
Associated conditions / phenotypes
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.