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Variant (rsID / SNP)

rs149710600

PRKG1

rs149710600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKG1. Location: chromosome 10, position 54,040,611. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PRKG1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:54040611
Cytoband
10q21.1
HGVS
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe)
Allele change
Missense_Y474F

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 8|Cardiovascular phenotype

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.