COL3A1 c.3869T>C ;(p.I1290T)

Variant ID: 2-189874949-T-C

NM_000090.3(COL3A1):c.3869T>C;(p.I1290T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Journal Of Translational Medicine
Poninska, J K JK; Bilinska, Z T ZT; Franaszczyk, M M; Michalak, E E; Rydzanicz, M M; Szpakowski, E E; Pollak, A A; Milanowska, B B; Truszkowska, G G; Chmielewski, P P; Sioma, A A; Janaszek-Sitkowska, H H; Klisiewicz, A A; Michalowska, I I; Makowiecka-Ciesla, M M; Kolsut, P P; Stawinski, P P; Foss-Nieradko, B B; Szperl, M M; Grzybowski, J J; Hoffman, P P; Januszewicz, A A; Kusmierczyk, M M; Ploski, R R
Publication Date: 2016-05-04

Variant appearance in text: COL3A1: 3869T>C; I1290T
PubMed Link: 27146836
Variant Present in the following documents:
  • Main text
  • 12967_2016_Article_870.pdf
View BVdb publication page