PKD1 c.8786_8787insATCTGCAGCTCAACTATACGCTGC ;(p.L2929_D2930insSAAQLYAA)

Variant ID: 16-2153271-C-CGCAGCGTATAGTTGAGCTGCAGAT

NM_001009944.2(PKD1):c.8786_8787insATCTGCAGCTCAACTATACGCTGC;(p.L2929_D2930insSAAQLYAA)

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: 8786_8787insATCTGCAGCTCAACTATACGCTGC
PubMed Link: 24374109
Variant Present in the following documents:
  • Main text
View BVdb publication page