LRP5

Gene name: low density lipoprotein receptor-related protein 5
OMIM ID: 603506
Chromosome location: 11q13.2

Mutations

Disease/Phenotype	Polycystic kidney disease, adult type I
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.

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