Bibliome.ai browser hg19
Search
About
Stats
FAQ
COL4A5 c.1152del ;(p.P385Lfs*89)
Variant ID: X-107829962-CT-C
NM_033380.2(
COL4A5
):c.1152del;(p.P385Lfs*89)
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:
Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique.
Molecular Genetics & Genomic Medicine
Zhao, Xuechao X; Chen, Chen C; Wei, Yanfu Y; Zhao, Ganye G; Liu, Lina L; Wang, Conghui C; Zhang, Junjun J; Kong, Xiangdong X
Publication Date: 2019-06
Variant appearance in text: COL4A5: 1151delT; Pro385Leufs
PubMed Link:
30968591
Variant Present in the following documents:
Main text
MGG3-7-e653.pdf
View BVdb publication page