Variant (rsID / SNP)

rs148617572

rs148617572 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,524,480. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PKHD1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:51524480
Cytoband: 6p12.3
HGVS: NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
Allele change: Missense_R3482C

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.