COL3A1 c.3690C>G ;(p.N1230K)

Variant ID: 2-189873814-C-G

NM_000090.3(COL3A1):c.3690C>G;(p.N1230K)

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:

Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

The Journal Of Bone And Joint Surgery. American Volume
Haller, Gabe G; Alvarado, David M DM; Willing, Marcia C MC; Braverman, Alan C AC; Bridwell, Keith H KH; Kelly, Michael M; Lenke, Lawrence G LG; Luhmann, Scott J SJ; Gurnett, Christina A CA; Dobbs, Matthew B MB
Publication Date: 2015-09-02

Variant appearance in text: COL3A1: N1230K
PubMed Link: 26333736
Variant Present in the following documents:
  • Main text
View BVdb publication page