COL4A5 c.510G>A ;(p.K170=)

Variant ID: X-107816848-G-A

NM_033380.2(COL4A5):c.510G>A;(p.K170=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.

Cureus
Al-Blushi, Sania S; Bantan, Najwa Abdalkabeer A NAA; Al-Abdullatif, Saad S; Taher, Mohiuddin M MM
Publication Date: 2022-12

Variant appearance in text: ATS: 510G>A
PubMed Link: 36578839
Variant Present in the following documents:
  • cureus-0014-00000032899.pdf
View BVdb publication page



Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients.

Oxidative Medicine And Cellular Longevity
Németh, Csilla E CE; Nemoda, Zsófia Z; Lőw, Péter P; Szabó, Pál P; Horváth, Erzsébet Z EZ; Willaert, Andy A; Boel, Annekatrien A; Callewaert, Bert L BL; Coucke, Paul J PJ; Colombi, Marina M; Bánhegyi, Gábor G; Margittai, Éva É
Publication Date: 2019

Variant appearance in text: ATS: 510G>A
PubMed Link: 30800210
Variant Present in the following documents:
  • Main text
  • OMCL2019-8156592.pdf
View BVdb publication page