Variant (rsID / SNP)

rs5183

rs5183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGTR1. Location: chromosome 3, position 148,459,884. Clinical significance in the table: Benign.

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Reference-table entries

AGTR1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:148459884
Cytoband: 3q24
HGVS: NM_000685.5(AGTR1):c.1062A>G (p.Pro354=)
Allele change: Synonymous_P354P

Associated conditions / phenotypes

Renal tubular dysgenesis

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.