Variant (rsID / SNP)
rs145782750
rs145782750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POR. Location: chromosome 7, position 75,615,552. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PORConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:75615552
- Cytoband
- 7q11.23
- HGVS
- NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
- Allele change
- Missense_V631I
Associated conditions / phenotypes
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.