Variant (rsID / SNP)
rs121917742
rs121917742 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to REN. Location: chromosome 1, position 204,128,527. Clinical significance in the table: Pathogenic.
Reference-table entries
RENPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:204128527
- Cytoband
- 1q32.1
- HGVS
- NM_000537.4(REN):c.689G>A (p.Arg230Lys)
- Allele change
- Missense_R230K
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.