COL4A5 c.3508G>C ;(p.G1170R)

Variant ID: X-107909779-G-C

NM_033380.2(COL4A5):c.3508G>C;(p.G1170R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome.

Frontiers In Medicine
Cerkauskaite, Agne A; Savige, Judy J; Janonyte, Karolina K; Jeremiciute, Ieva I; Miglinas, Marius M; Kazenaite, Edita E; Laurinavicius, Arvydas A; Strupaite-Sileikiene, Rasa R; Vainutiene, Vija V; Burnyte, Birute B; Jankauskiene, Augustina A; Rolfs, Arndt A; Bauer, Peter P; Schröder, Sabine S; Cerkauskiene, Rimante R
Publication Date: 2022

Variant appearance in text: COL4A5: 3508G>C; Gly1170Arg
PubMed Link: 35419377
Variant Present in the following documents:
  • Main text
  • Data_Sheet_1.pdf
  • fmed-09-859521.pdf
View BVdb publication page