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Variant (rsID / SNP)

rs143581690

PKD2

rs143581690 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKD2. Location: chromosome 4, position 88,968,020. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PKD2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
4:88968020
Cytoband
4q22.1
HGVS
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu)
Allele change
Missense_V516L

Associated conditions / phenotypes

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

Public references

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