Variant (rsID / SNP)

rs398122935

rs398122935 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGTR1. Location: chromosome 3, position 148,459,073. Clinical significance in the table: Uncertain significance.

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Reference-table entries

AGTR1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:148459073
Cytoband: 3q24
HGVS: NM_000685.5(AGTR1):c.251G>A (p.Trp84Ter)
Allele change: Nonsense_W84X

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.