COL4A5 c.3276del ;(p.N1093Tfs*59)

Variant ID: X-107898587-AG-A

NM_033380.2(COL4A5):c.3276del;(p.N1093Tfs*59)

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:

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: 3274delG; Asn1093Thrfs
PubMed Link: 33330536
Variant Present in the following documents:
  • Main text
  • fmed-07-580376.pdf
View BVdb publication page