Variant (rsID / SNP)
rs397514688
rs397514688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACE. Location: chromosome 17, position 61,560,533. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ACEPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:61560533
- Cytoband
- 17q23.3
- HGVS
- NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)
- Allele change
- Nonsense_R496X
Associated conditions / phenotypes
Renal tubular dysgenesis|Abnormality of prenatal development or birth
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.