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Variant (rsID / SNP)

rs45500692

PKHD1

rs45500692 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,920,485. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PKHD1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
6:51920485
Cytoband
6p12.2
HGVS
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
Allele change
Missense_T579M

Associated conditions / phenotypes

Autosomal recessive polycystic kidney disease|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.