Variant (rsID / SNP)
rs200391019
rs200391019 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,889,738. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PKHD1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:51889738
- Cytoband
- 6p12.2
- HGVS
- NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
- Allele change
- Missense_R1624W
Associated conditions / phenotypes
Autosomal recessive polycystic kidney disease|Abnormality of the intrahepatic bile duct|Polycystic kidney disease|Caroli disease|Polycystic kidney disease 4|Autosomal dominant polycystic liver disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.