COL4A5 c.3307_3314del ;(p.P1103Afs*31)

Variant ID: X-107898619-ATCCTGGTT-A

NM_033380.2(COL4A5):c.3307_3314del;(p.P1103Afs*31)

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: 3306_3313del; Pro1103Alafs*31
PubMed Link: 30968591
Variant Present in the following documents:
  • Main text
  • MGG3-7-e653.pdf
View BVdb publication page