Variant (rsID / SNP)

rs147654263

rs147654263 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKD2. Location: chromosome 4, position 88,989,111. 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: 4:88989111
Cytoband: 4q22.1
HGVS: NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
Allele change: Missense_R807Q

Associated conditions / phenotypes

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

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.