COL4A5 c.2472dup ;(p.G825Rfs*30)

Variant ID: X-107858216-C-CA

NM_033380.2(COL4A5):c.2472dup;(p.G825Rfs*30)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.

Orphanet Journal Of Rare Diseases
Zhang, Xiao X; Zhang, Yanqin Y; Zhang, Yanmei Y; Gu, Hongbo H; Chen, Zhe Z; Ren, Lei L; Lu, Xingxing X; Chen, Li L; Wang, Fang F; Liu, Yuhe Y; Ding, Jie J
Publication Date: 2018-12-22

Variant appearance in text: COL4A5: 2471_2473insA; Gly825Argfs*30
PubMed Link: 30577881
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_974.pdf
View BVdb publication page