Polycystic kidney disease, adult type I
OMIM:173900Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | LRP5 |
|---|---|
| Reference transcript | NM_002335.2 |
| DNA Change | c.1680G>T |
| A.A. Change | p.Trp560Cys |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Cnossen WR, Te Morsche RH, Hoischen A, Gilissen C, Venselaar H, Mehdi S, Bergmann C, Losekoot M, Breuning MH, Peters DJ, Veltman JA, Drenth JP.
LRP5 variants may contribute to ADPKD. Eur J Hum Genet. 2015 Apr 29. |
| Gene Symbol | PKD1 |
|---|---|
| Reference transcript | NM_001009944.2 |
| DNA Change | c.1281_1283delGGC |
| A.A. Change | p.Ala428del |
| Exon/Intron | exon 6 |
| Mutation Type | deletion |
| Reference | Cnossen WR, Te Morsche RH, Hoischen A, Gilissen C, Venselaar H, Mehdi S, Bergmann C, Losekoot M, Breuning MH, Peters DJ, Veltman JA, Drenth JP.
LRP5 variants may contribute to ADPKD. Eur J Hum Genet. 2015 Apr 29. |
| Gene Symbol | PKD1 |
|---|---|
| Reference transcript | NM_001009944.2 |
| DNA Change | c.3133G>C |
| A.A. Change | p.Val1045Leu |
| Exon/Intron | exon 13 |
| Mutation Type | substitution |
| Reference | Cnossen WR, Te Morsche RH, Hoischen A, Gilissen C, Venselaar H, Mehdi S, Bergmann C, Losekoot M, Breuning MH, Peters DJ, Veltman JA, Drenth JP.
LRP5 variants may contribute to ADPKD. Eur J Hum Genet. 2015 Apr 29. |