Variant (rsID / SNP)

rs121912974

rs121912974 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POR. Location: chromosome 7, position 75,612,866. Clinical significance in the table: Pathogenic.

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Reference-table entries

PORPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:75612866
Cytoband: 7q11.23
HGVS: NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
Allele change: Missense_A287P

Associated conditions / phenotypes

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis|Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|POR-related disorder

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.