Variant (rsID / SNP)

rs200179145

rs200179145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,768,399. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PKHD1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:51768399
Cytoband: 6p12.2
HGVS: NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
Allele change: Missense_I2331K

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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