PKD1 c.9923+1G>T

Variant ID: 16-2149861-C-A

NM_001009944.2(PKD1):c.9923+1G>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Polygenic risk affects the penetrance of monogenic kidney disease.

Medrxiv : The Preprint Server For Health Sciences
Khan, Atlas A; Shang, Ning N; Nestor, Jordan G JG; Weng, Chunhua C; Hripcsak, George G; Harris, Peter C PC; Gharavi, Ali G AG; Kiryluk, Krzysztof K
Publication Date: 2023-05-10

Variant appearance in text: PKD1: 9923+1G>T
PubMed Link: 37214819
Variant Present in the following documents:
  • media-1.xlsx, sheet 3
  • media-1.xlsx, sheet 2
View BVdb publication page



Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mallawaarachchi, Amali C AC; Furlong, Timothy J TJ; Shine, John J; Harris, Peter C PC; Cowley, Mark J MJ
Publication Date: 2019-06

Variant appearance in text: PKD1: 9923+1G>T
PubMed Link: 30369598
Variant Present in the following documents:
  • Main text
View BVdb publication page