COL3A1 c.1038C>T ;(p.S346=)

Variant ID: 2-189857654-C-T

NM_000090.3(COL3A1):c.1038C>T;(p.S346=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Association of Intracranial Aneurysms With Aortic Aneurysms in 125 Patients With Fusiform and 4253 Patients With Saccular Intracranial Aneurysms and Their Family Members and Population Controls.

Journal Of The American Heart Association
Kurtelius, Arttu A; Väntti, Nelli N; Rezai Jahromi, Behnam B; Tähtinen, Olli O; Manninen, Hannu H; Koskenvuo, Juha J; Tulamo, Riikka R; Kotikoski, Satu S; Nurmonen, Heidi H; Kämäräinen, Olli-Pekka OP; Huttunen, Terhi T; Huttunen, Jukka J; von Und Zu Fraunberg, Mikael M; Koivisto, Timo T; Jääskeläinen, Juha E JE; Lindgren, Antti E AE
Publication Date: 2019-09-17

Variant appearance in text: COL3A1: 1038C>T; Ser346=
PubMed Link: 31538843
Variant Present in the following documents:
  • Main text
  • JAH3-8-e013277.pdf
View BVdb publication page