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Last update

21/6/2017

Phenotype: Polycystic kidney and hepatic disease

OMIM: 263200
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

PKHD1 || c.7350+653A>G

Gene/Locus:	PKHD1
Dna Change:	c.7350+653A>G
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 46
Transcript:	NM_138694.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	NA	3.6% of our mutated alleles	NA	Michel-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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Polycystic kidney and hepatic disease

References