Variant (rsID / SNP)
rs1135612
rs1135612 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POR. Location: chromosome 7, position 75,609,677. 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
- 7:75609677
- Cytoband
- 7q11.23
- HGVS
- NM_001395413.1(POR):c.378A>G (p.Pro126=)
- Allele change
- Synonymous_P129P
Associated conditions / phenotypes
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Classic congenital adrenal hyperplasia due to 21-hydroxylase 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.