COL3A1 c.1835G>A ;(p.G612D)

Variant ID: 2-189862081-G-A

NM_000090.3(COL3A1):c.1835G>A;(p.G612D)

This variant was identified in 2 publications

View GRCh38 version.



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

Publications:

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

Gene
Kuivaniemi, Helena H; Tromp, Gerard G
Publication Date: 2019-07-30

Variant appearance in text: COL3A1: Gly612Asp
PubMed Link: 31075413
Variant Present in the following documents:
  • Main text
View BVdb publication page


Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

Plos One
Chiarelli, Nicola N; Carini, Giulia G; Zoppi, Nicoletta N; Ritelli, Marco M; Colombi, Marina M
Publication Date: 2018

Variant appearance in text: COL3A1: 1835G>A; Gly612Asp
PubMed Link: 29346445
Variant Present in the following documents:
  • Main text
  • pone.0191220.pdf
View BVdb publication page