COL3A1 c.1258G>C ;(p.G420R)

Variant ID: 2-189859023-G-C

NM_000090.3(COL3A1):c.1258G>C;(p.G420R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.

Nature Communications
Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N
Publication Date: 2021-09-14

Variant appearance in text: COL3A1: Gly420Arg
PubMed Link: 34521849
Variant Present in the following documents:
  • 41467_2021_25787_MOESM4_ESM.xlsx, sheet 1
  • 41467_2021_25787_MOESM10_ESM.xlsx, sheet 7
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: 1258G>C
PubMed Link: 27488172
Variant Present in the following documents:
  • Main text
  • 13023_2016_Article_491.pdf
View BVdb publication page