Variant (rsID / SNP)

rs367797185

rs367797185 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACE. Location: chromosome 17, position 61,560,855. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACEConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:61560855
Cytoband: 17q23.3
HGVS: NM_000789.4(ACE):c.1522C>T (p.Arg508Ter)
Allele change: Nonsense_R508X

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.