COL4A5 c.2184del ;(p.T729Hfs*7)

Variant ID: X-107846228-TG-T

NM_033380.2(COL4A5):c.2184del;(p.T729Hfs*7)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.

Frontiers In Medicine
Mastrangelo, Antonio A; Giani, Marisa M; Groppali, Elena E; Castorina, Pierangela P; Soldà, Giulia G; Robusto, Michela M; Fallerini, Chiara C; Bruttini, Mirella M; Renieri, Alessandra A; Montini, Giovanni G
Publication Date: 2020

Variant appearance in text: COL4A5: 2184delG
PubMed Link: 33330536
Variant Present in the following documents:
  • Main text
  • fmed-07-580376.pdf
View BVdb publication page