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Variant (rsID / SNP)

rs145343957

PKD2

rs145343957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKD2. Location: chromosome 4, position 88,989,102. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PKD2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:88989102
Cytoband
4q22.1
HGVS
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
Allele change
Missense_S804N

Associated conditions / phenotypes

Autosomal dominant polycystic kidney disease|Polycystic kidney disease 2|Polycystic kidney disease

Public references

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