Variant (rsID / SNP)

rs398124502

rs398124502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,612,725. Clinical significance in the table: Pathogenic.

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Reference-table entries

PKHD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 6:51612725
Cytoband: 6p12.3
HGVS: NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)

Associated conditions / phenotypes

Autosomal recessive polycystic kidney disease|Polycystic kidney disease 4

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.