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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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