Variant (rsID / SNP)

rs374450718

rs374450718 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKD2. Location: chromosome 4, position 88,973,139. 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: 4:88973139
Cytoband: 4q22.1
HGVS: NM_000297.4(PKD2):c.1549-4T>C
Allele change: Silent

Associated conditions / phenotypes

Autosomal dominant 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.