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Variant (rsID / SNP)

rs148335285

PKHD1

rs148335285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,897,889. 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
6:51897889
Cytoband
6p12.2
HGVS
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)
Allele change
Synonymous_T1101T

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.