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Variant (rsID / SNP)

rs188914598

PKHD1

rs188914598 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,914,942. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PKHD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:51914942
Cytoband
6p12.2
HGVS
NM_138694.4(PKHD1):c.2279+13T>G
Allele change
Silent

Associated conditions / phenotypes

Autosomal recessive polycystic kidney disease

Public references

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