COL4A5 c.687+1G>A

Variant ID: X-107821350-G-A

NM_033380.2(COL4A5):c.687+1G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: COL4A5: 687+1G>A
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.

Npj Genomic Medicine
Wang, Zhigang Z; Xu, Hongen H; Xiang, Tianchao T; Liu, Danhua D; Xu, Fei F; Zhao, Lixiang L; Feng, Yonghua Y; Xu, Linan L; Liu, Jialu J; Fang, Ye Y; Liu, Huanfei H; Li, Ruijun R; Hu, Xinxin X; Guan, Jingyuan J; Liu, Longshan L; Feng, Guiwen G; Shen, Qian Q; Xu, Hong H; Frishman, Dmitrij D; Tang, Wenxue W; Guo, Jiancheng J; Rao, Jia J; Shang, Wenjun W
Publication Date: 2021-07-02

Variant appearance in text: COL4A5: 687+1G>A
PubMed Link: 34215756
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.

Bmc Nephrology
Lin, Fujun F; Bian, Fan F; Zou, Jun J; Wu, Xiangru X; Shan, Jianping J; Lu, Wei W; Yao, Yao Y; Jiang, Gengru G; Gale, Daniel Philip DP
Publication Date: 2014-11-07

Variant appearance in text: COL4A5: 687+1G>A
PubMed Link: 25381091
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular testing for adult type Alport syndrome.

Bmc Nephrology
Pont-Kingdon, Genevieve G; Sumner, Kelli K; Gedge, Friederike F; Miller, Chris C; Denison, Joyce J; Gregory, Martin M; Lyon, Elaine E
Publication Date: 2009-11-17

Variant appearance in text: COL4A5: 687+1G>A
PubMed Link: 19919694
Variant Present in the following documents:
  • Main text
  • 1471-2369-10-38.pdf
View BVdb publication page