COL3A1 c.2050G>C ;(p.G684R)

Variant ID: 2-189864038-G-C

NM_000090.3(COL3A1):c.2050G>C;(p.G684R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

Human Mutation
Overwater, Eline E; Marsili, Luisa L; Baars, Marieke J H MJH; Baas, Annette F AF; van de Beek, Irma I; Dulfer, Eelco E; van Hagen, Johanna M JM; Hilhorst-Hofstee, Yvonne Y; Kempers, Marlies M; Krapels, Ingrid P IP; Menke, Leonie A LA; Verhagen, Judith M A JMA; Yeung, Kak K KK; Zwijnenburg, Petra J G PJG; Groenink, Maarten M; van Rijn, Peter P; Weiss, Marjan M MM; Voorhoeve, Els E; van Tintelen, J Peter JP; Houweling, Arjan C AC; Maugeri, Alessandra A
Publication Date: 2018-09

Variant appearance in text: COL3A1: Gly684Arg
PubMed Link: 29907982
Variant Present in the following documents:
  • Main text
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