Variant (rsID / SNP)

rs139014478

rs139014478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,524,409. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PKHD1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:51524409
Cytoband: 6p12.3
HGVS: NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)
Allele change: Missense_S3505R

Associated conditions / phenotypes

Autosomal recessive polycystic kidney disease|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.