Variant (rsID / SNP)

rs74315283

rs74315283 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGT. Location: chromosome 1, position 230,841,679. Clinical significance in the table: Pathogenic.

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Reference-table entries

AGTPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:230841679
Cytoband: 1q42.2
HGVS: NM_000029.4(AGT):c.1124G>A (p.Arg375Gln)
Allele change: Missense_R375Q

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.