COL3A1 c.1859C>T ;(p.P620L)

Variant ID: 2-189862105-C-T

NM_000090.3(COL3A1):c.1859C>T;(p.P620L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

Neurology
Tan, Rhea Y Y RYY; Traylor, Matthew M; Megy, Karyn K; Duarte, Daniel D; Deevi, Sri V V SVV; Shamardina, Olga O; Mapeta, Rutendo P RP; , ; Ouwehand, Willem H WH; Gräf, Stefan S; Downes, Kate K; Markus, Hugh S HS
Publication Date: 2019-11-26

Variant appearance in text: COL3A1: 1859C>T; Pro620Leu
PubMed Link: 31719132
Variant Present in the following documents:
  • NEUROLOGY2019966051.pdf
View BVdb publication page