Variant (rsID / SNP)
rs4309
rs4309 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACE. Location: chromosome 17, position 61,559,923. Clinical significance in the table: Benign.
Reference-table entries
ACEBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:61559923
- Cytoband
- 17q23.3
- HGVS
- NM_000789.4(ACE):c.1215C>T (p.Pro405=)
- Allele change
- Synonymous_P405P
Associated conditions / phenotypes
Renal tubular dysgenesis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.