Variant (rsID / SNP)

rs4331

rs4331 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACE. Location: chromosome 17, position 61,564,052. Clinical significance in the table: Benign.

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Reference-table entries

ACEBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:61564052
Cytoband: 17q23.3
HGVS: NM_000789.4(ACE):c.2193A>G (p.Ala731=)
Allele change: Synonymous_A731A

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.