COL3A1 c.2293G>C ;(p.G765R)

Variant ID: 2-189866132-G-C

NM_000090.3(COL3A1):c.2293G>C;(p.G765R)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.

Orphanet Journal Of Rare Diseases
Adham, Salma S; Trystram, Denis D; Albuisson, Juliette J; Domigo, Valérie V; Legrand, Anne A; Jeunemaitre, Xavier X; Frank, Michael M
Publication Date: 2018-06-25

Variant appearance in text: COL3A1: 2293G>C
PubMed Link: 29940997
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_842.pdf
View BVdb publication page