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Variant (rsID / SNP)

rs746972457

PKHD1

rs746972457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,890,842. 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
Deletion
Chromosome / position
6:51890842
Cytoband
6p12.2
HGVS
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)

Associated conditions / phenotypes

Autosomal recessive polycystic kidney disease|Autosomal dominant polycystic liver disease|Polycystic kidney disease 4

Public references

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