COL3A1 c.3544G>A ;(p.G1182R)

Variant ID: 2-189873668-G-A

NM_000090.3(COL3A1):c.3544G>A;(p.G1182R)

This variant was identified in 3 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: 3544G>A; Gly1182Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: COL3A1: G1182R
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration.

Orphanet Journal Of Rare Diseases
Busch, Albert A; Hoffjan, Sabine S; Bergmann, Frauke F; Hartung, Birgit B; Jung, Helena H; Hanel, Daniela D; Tzschach, Andeas A; Kadar, Janos J; von Kodolitsch, Yskert Y; Germer, Christoph-Thomas CT; Trobisch, Heiner H; Strasser, Erwin E; Wildenauer, René R
Publication Date: 2016-08-03

Variant appearance in text: COL3A1: 3544G>A
PubMed Link: 27488172
Variant Present in the following documents:
  • Main text
  • 13023_2016_Article_491.pdf
View BVdb publication page