Variant (rsID / SNP)

rs41273718

rs41273718 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,483,243. Clinical significance in the table: Likely benign.

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Reference-table entries

PKHD1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:51483243
Cytoband: 6p12.3
HGVS: NM_138694.4(PKHD1):c.*636C>A
Allele change: Silent

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.