Variant (rsID / SNP)

rs148175064

rs148175064 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POR. Location: chromosome 7, position 75,615,704. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PORUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:75615704
Cytoband: 7q11.23
HGVS: NM_001395413.1(POR):c.1939G>A (p.Val647Met)
Allele change: Missense_V650M

Associated conditions / phenotypes

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

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.