COL3A1 c.1204G>A ;(p.G402S)

Variant ID: 2-189858969-G-A

NM_000090.3(COL3A1):c.1204G>A;(p.G402S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Weerakkody, Ruwan R; Ross, David D; Parry, David A DA; Ziganshin, Bulat B; Vandrovcova, Jana J; Gampawar, Piyush P; Abdullah, Abdulshakur A; Biggs, Jennifer J; Dumfarth, Julia J; Ibrahim, Yousef Y; , ; Bicknell, Colin C; Field, Mark M; Elefteriades, John J; Cheshire, Nick N; Aitman, Timothy J TJ
Publication Date: 2018-11

Variant appearance in text: COL3A1: 1204G>A; Gly402Ser
PubMed Link: 29543232
Variant Present in the following documents:
  • Main text
  • emss-76135.pdf
View BVdb publication page