Bibliome.ai browser hg19
Search
About
Stats
FAQ
COL4A5 c.3990_4015+33del
Variant ID: X-107923956-GTCTCCCTGGTGTTCCAGGATTCCCAGGTATTTGAAGGGATTTTTGTGGTTTCCCTTTAT-G
NM_033380.2(
COL4A5
):c.3990_4015+33del
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 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: 3990_4016del
PubMed Link:
31949866
Variant Present in the following documents:
Main text
View BVdb publication page