Variant (rsID / SNP)

rs137852950

rs137852950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,524,512. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PKHD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:51524512
Cytoband: 6p12.3
HGVS: NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly)
Allele change: Missense_V3471G

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.