PKD1 c.10551_10560del ;(p.E3518Hfs*6)

Variant ID: 16-2144150-GCCCCAGCTCC-G

NM_001009944.2(PKD1):c.10551_10560del;(p.E3518Hfs*6)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

The Journal Of Molecular Diagnostics : Jmd
Tan, Adrian Y AY; Michaeel, Alber A; Liu, Genyan G; Elemento, Olivier O; Blumenfeld, Jon J; Donahue, Stephanie S; Parker, Tom T; Levine, Daniel D; Rennert, Hanna H
Publication Date: 2014-03

Variant appearance in text: PKD1: 10548_10557del
PubMed Link: 24374109
Variant Present in the following documents:
  • Main text
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