COL3A1 c.406G>C ;(p.G136R)

Variant ID: 2-189850463-G-C

NM_000090.3(COL3A1):c.406G>C;(p.G136R)

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: COL3A1: 406G>C; Gly136Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genes and abdominal aortic aneurysm.

Annals Of Vascular Surgery
Hinterseher, Irene I; Tromp, Gerard G; Kuivaniemi, Helena H
Publication Date: 2011-04

Variant appearance in text: COL3A1: G136R
PubMed Link: 21146954
Variant Present in the following documents:
  • Main text
View BVdb publication page