COL4A5 c.2395+1G>A

Variant ID: X-107850123-G-A

NM_033380.2(COL4A5):c.2395+1G>A

This variant was identified in 2 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: 2395+1G>A
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.

Plos One
Kovács, Gábor G; Kalmár, Tibor T; Endreffy, Emőke E; Ondrik, Zoltán Z; Iványi, Béla B; Rikker, Csaba C; Haszon, Ibolya I; Túri, Sándor S; Sinkó, Mária M; Bereczki, Csaba C; Maróti, Zoltán Z
Publication Date: 2016

Variant appearance in text: COL4A5: 2395+1G>A
PubMed Link: 26934356
Variant Present in the following documents:
  • Main text
  • pone.0149241.pdf
View BVdb publication page