Variant (rsID / SNP)
rs137852944
rs137852944 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,947,999. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PKHD1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:51947999
- Cytoband
- 6p12.2
- HGVS
- NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
- Allele change
- Missense_T36M
Associated conditions / phenotypes
Autosomal recessive polycystic kidney disease|Colorectal cancer, protection against|Polycystic kidney disease|Oligohydramnios|Periportal fibrosis|Polycystic kidney disease|Autosomal dominant polycystic liver disease|Polycystic kidney disease 4|Kidney disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.