Variant (rsID / SNP)

rs137852949

rs137852949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,923,147. Clinical significance in the table: Pathogenic.

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Reference-table entries

PKHD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:51923147
Cytoband: 6p12.2
HGVS: NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
Allele change: Missense_R496G

Associated conditions / phenotypes

Autosomal recessive polycystic kidney disease|Autosomal dominant polycystic liver disease

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.