Variant (rsID / SNP)

rs34997494

rs34997494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKG1. Location: chromosome 10, position 53,822,301. Clinical significance in the table: Benign.

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Reference-table entries

PRKG1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:53822301
Cytoband: 10q21.1
HGVS: NM_006258.4(PRKG1):c.845A>G (p.Asn282Ser)
Allele change: Missense_N267S

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 8|Cardiovascular phenotype

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.