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Variant (rsID / SNP)

rs141622697

PKHD1

rs141622697 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,914,991. 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
6:51914991
Cytoband
6p12.2
HGVS
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
Allele change
Missense_A748V

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.