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Variant (rsID / SNP)

rs139306706

PKHD1

rs139306706 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKHD1. Location: chromosome 6, position 51,613,199. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PKHD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:51613199
Cytoband
6p12.3
HGVS
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
Allele change
Missense_A3072V

Associated conditions / phenotypes

Autosomal recessive polycystic kidney disease|Polycystic kidney disease 4

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.