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COL4A5 c.500del ;(p.P167Qfs*36)
Variant ID: X-107816836-GC-G
NM_033380.2(
COL4A5
):c.500del;(p.P167Qfs*36)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Novel deletion mutation in a Chinese family with X-linked alport syndrome.
International Journal Of Clinical And Experimental Pathology
Li, Yongzhen Y; He, Qingnan Q; Wang, Yanran Y; Wang, Ying Y; Dang, Xiqiang X; Wu, Xiaochuan X; Li, Xiaoyan X; Shuai, Lanjun L; Yi, Zhuwen Z
Publication Date: 2018
Variant appearance in text: COL4A5: 499delC
PubMed Link:
31949866
Variant Present in the following documents:
Main text
View BVdb publication page
Human Genetic Diseases.
Biomed Research International
Deng, Hao H; Riederer, Peter P; Deng, Han-Xiang HX; Le, Weidong W; Xiong, Wei W; Guo, Yi Y
Publication Date: 2015
Variant appearance in text: COL4A5: 499delC; Pro167Glnfs
PubMed Link:
26078946
Variant Present in the following documents:
BMRI2015-315216.pdf
View BVdb publication page
A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.
Biomed Research International
Xiu, Xiaofei X; Yuan, Jinzhong J; Deng, Xiong X; Xiao, Jingjing J; Xu, Hongbo H; Zeng, Zhaoyang Z; Guan, Liping L; Xu, Fengping F; Deng, Sheng S
Publication Date: 2014
Variant appearance in text: COL4A5: 499delC; Pro167Glnfs
PubMed Link:
25110662
Variant Present in the following documents:
Main text
BMRI2014-186048.pdf
View BVdb publication page