Gene: polycystic kidney and hepatic disease 1; PKHD1


Gene Symbol: PKHD1
OMIM: 606702
Chromosome location: 6p12.3-p12.2

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Polycystic kidney and hepatic disease || c.7350+653A>G

Phenotype:    Polycystic kidney and hepatic disease
Dna Change:    c.7350+653A>G
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:    Splice site
Location:    intron 46
Transcript:    NM_138694.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
FranceNANA3.6% of our mutated allelesNAMichel-Calemard L et al., 2009Michel-Calemard L, Dijoud F, Till M, Lambert JC, Vercherat M, Tardy V, Coubes C, Morel Y, . Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.. Clin. Genet.. 2009; 75(2):203-6

References

Michel-Calemard L, Dijoud F, Till M, Lambert JC, Vercherat M, Tardy V, Coubes C, Morel Y, Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.Clin. Genet.. 2009; 75(2):203-6