COL3A1 c.2977G>A ;(p.G993S)

Variant ID: 2-189870121-G-A

NM_000090.3(COL3A1):c.2977G>A;(p.G993S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report.

Bmc Pulmonary Medicine
Wan, Tingting T; Ye, Jinyan J; Wu, Peiliang P; Cheng, Mengshi M; Jiang, Baihong B; Wang, Hailong H; Li, Jianmin J; Ma, Jun J; Wang, Liangxing L; Huang, Xiaoying X
Publication Date: 2020-05-29

Variant appearance in text: COL3A1: 2977G>A; Gly993Ser
PubMed Link: 32471395
Variant Present in the following documents:
  • Main text
  • 12890_2020_Article_1164.pdf
View BVdb publication page