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Variant (rsID / SNP)

rs200511261

PKHD1

rs200511261 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,612,884. 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
6:51612884
Cytoband
6p12.3
HGVS
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
Allele change
Missense_I3177T

Associated conditions / phenotypes

Autosomal recessive polycystic kidney 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.