COL4A5 c.348_349insTCCGG ;(p.G117Sfs*40)

Variant ID: X-107812015-A-ATCCGG

NM_033380.2(COL4A5):c.348_349insTCCGG;(p.G117Sfs*40)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Long-term follow-up of an Alport syndrome patient with a novel mutation of COL4A5.

International Journal Of Clinical And Experimental Pathology
Xiang, Rong R; Li, Jing-Jing JJ; Liu, Ji-Shi JS; Fan, Liang-Liang LL; Li, Lin L; Xia, Kun K; Zhang, Hao H
Publication Date: 2017

Variant appearance in text: COL4A5: 348_349insTCCGG; G117Sfs
PubMed Link: 31966729
Variant Present in the following documents:
  • Main text
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