Variant (rsID / SNP)

rs182468850

rs182468850 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,890,624. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PKHD1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:51890624
Cytoband: 6p12.2
HGVS: NM_138694.4(PKHD1):c.3984C>T (p.Val1328=)
Allele change: Synonymous_V1328V

Associated conditions / phenotypes

Autosomal recessive polycystic kidney 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.