COL4A5 c.141+1G>A

Variant ID: X-107783036-G-A

NM_033380.2(COL4A5):c.141+1G>A

This variant was identified in 4 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: COL4A5: 141+1G>A
PubMed Link: 37214819
Variant Present in the following documents:
  • media-2.xlsx, sheet 2
  • media-2.xlsx, sheet 4
  • media-2.xlsx, sheet 3
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: COL4A5: 141+1G>A
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: COL4A5: 141+1G>A
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.

Human Genome Variation
Hines, Stephanie L SL; Agarwal, Anjali A; Ghandour, Mohamedanwar M; Aslam, Nabeel N; Mohammad, Ahmed N AN; Atwal, Paldeep S PS
Publication Date: 2018

Variant appearance in text: COL4A5: 141+1G>A
PubMed Link: 30002862
Variant Present in the following documents:
  • Main text
  • 41439_2018_Article_16.pdf
View BVdb publication page