PKD1 c.10540C>T ;(p.Q3514*)

Variant ID: 16-2144171-G-A

NM_001009944.2(PKD1):c.10540C>T;(p.Q3514*)

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: Q3514X
PubMed Link: 37214819
Variant Present in the following documents:
  • media-1.xlsx, sheet 3
  • media-1.xlsx, sheet 2
View BVdb publication page



Exome sequencing of Saudi Arabian patients with ADPKD.

Renal Failure
Al-Muhanna, Fahad A FA; Al-Rubaish, Abdullah M AM; Vatte, Chittibabu C; Mohiuddin, Shamim Shaikh SS; Cyrus, Cyril C; Ahmad, Arafat A; Shakil Akhtar, Mohammed M; Albezra, Mohammad Ahmad MA; Alali, Rudaynah A RA; Almuhanna, Afnan F AF; Huang, Kai K; Wang, Lusheng L; Al-Kuwaiti, Feras F; Elsalamouni, Tamer S Ahmed TSA; Al Hwiesh, Abdullah A; Huang, Xiaoyan X; Keating, Brendan B; Li, Jiankang J; Lanktree, Matthew B MB; Al-Ali, Amein K AK
Publication Date: 2019-11

Variant appearance in text: PKD1: 10540C>T; Q3514*
PubMed Link: 31488014
Variant Present in the following documents:
  • Main text
  • IRNF_41_1655453.pdf
View BVdb publication page