COL4A5 c.2146+2T>A

Variant ID: X-107845221-T-A

NM_033380.2(COL4A5):c.2146+2T>A

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 four novel mutations in the gene identified in Chinese patients with X-linked Alport syndrome.

Biomedical Reports
Zhao, Xuechao X; Shang, Xueliang X; Chen, Chen C; Liu, Lina L; Wang, Conghui C; Zhao, Ganye G; Zhang, Junjun J; Kong, Xiangdong X
Publication Date: 2020-08

Variant appearance in text: COL4A5: 2146+2T>A
PubMed Link: 32607233
Variant Present in the following documents:
  • Main text
  • br-13-02-01311.pdf
View BVdb publication page