PKHD1
Gene name: polycystic kidney and hepatic disease 1OMIM ID: 606702
Chromosome location: 6p12.3-p12
Mutations
| Disease/Phenotype | Polycystic kidney disease, autosomal recessive |
|---|---|
| Reference transcript | NM_138694.3 |
| DNA Change | c.3761_3762delCCinsG |
| A.A. Change | p.Ala1254Glyfs*49 |
| Exon/Intron | exon 32 |
| Mutation Type | indel |
| Reference | Quint A, Sagi M, Carmi S, Daum H, Macarov M, Ben Neriah Z, Meiner V, Elpeleg O, Lerer I.
An Ashkenazi founder mutation in the PKHD1 gene. Eur J Med Genet. 2016 Feb;59(2):86-90. doi: 10.1016/j.ejmg.2015.12.013. Epub 2015 Dec 23. |
| Disease/Phenotype | Polycystic kidney disease, autosomal recessive |
|---|---|
| Reference transcript | NM_138694.3 |
| DNA Change | c.8312T>C |
| A.A. Change | p.Val2771Ala |
| Exon/Intron | exon 53 |
| Mutation Type | substitution |
| Reference | Bergmann C, Frank V, Kupper F, Schmidt C, Senderek J, Zerres K.Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease. J Hum Genet. 2006;51(9):788-93. |