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Variant (rsID / SNP)

rs144979397

PKD1

rs144979397 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKD1. Location: chromosome 16, position 2,153,765. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PKD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:2153765
Cytoband
16p13.3
HGVS
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
Allele change
Missense_R2765C

Associated conditions / phenotypes

Polycystic kidney disease, adult type|Polycystic kidney disease

Public references

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