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COL4A5 c.980_983del ;(p.D327Vfs*18)
Variant ID: X-107826154-GGGAT-G
NM_033380.2(
COL4A5
):c.980_983del;(p.D327Vfs*18)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A mouse model for X-linked Alport syndrome induced by Del-ATGG in the Col4a5 gene.
Frontiers In Medicine
Wu, Wei-Qing WQ; Zhang, Jia-Xun JX; Cui, Ying-Xia YX; Zhang, Ming-Chao MC; Chen, Xiao-Hang XH; Duan, Shan S; Zeng, Cai-Hong CH; Li, Pei-Ning PN; Li, Xiao-Jun XJ
Publication Date: 2023
Variant appearance in text: COL4A5: 980_983del; D327Vfs*18
PubMed Link:
36968823
Variant Present in the following documents:
Main text
fmed-10-1086756.pdf
View BVdb publication page
Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.
Plos One
Liu, Jian-Hong JH; Wei, Xiu-Xiu XX; Li, Ang A; Cui, Ying-Xia YX; Xia, Xin-Yi XY; Qin, Wei-Song WS; Zhang, Ming-Chao MC; Gao, Er-Zhi EZ; Sun, Jun J; Gao, Chun-Lin CL; Liu, Feng-Xia FX; Wu, Qiu-Yue QY; Li, Wei-Wei WW; Asan, ; Liu, Zhi-Hong ZH; Li, Xiao-Jun XJ
Publication Date: 2017
Variant appearance in text: COL4A5: 980_983delATGG; D327Vfs*18
PubMed Link:
28542346
Variant Present in the following documents:
Main text
pone.0177685.pdf
View BVdb publication page