Variant (rsID / SNP)

rs28931607

rs28931607 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POR. Location: chromosome 7, position 75,615,277. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PORLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:75615277
Cytoband: 7q11.23
HGVS: NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr)
Allele change: Missense_C569Y

Associated conditions / phenotypes

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Congenital adrenal hyperplasia

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.