Variant (rsID / SNP)
rs5182
rs5182 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGTR1. Location: chromosome 3, position 148,459,395. Clinical significance in the table: Benign.
Reference-table entries
AGTR1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:148459395
- Cytoband
- 3q24
- HGVS
- NM_000685.5(AGTR1):c.573C>T (p.Leu191=)
- Allele change
- Synonymous_L191L
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.