COL4A5 c.347del ;(p.P116Qfs*39)

Variant ID: X-107812010-GC-G

NM_033380.2(COL4A5):c.347del;(p.P116Qfs*39)

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:

Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome.

Frontiers In Medicine
Cerkauskaite, Agne A; Savige, Judy J; Janonyte, Karolina K; Jeremiciute, Ieva I; Miglinas, Marius M; Kazenaite, Edita E; Laurinavicius, Arvydas A; Strupaite-Sileikiene, Rasa R; Vainutiene, Vija V; Burnyte, Birute B; Jankauskiene, Augustina A; Rolfs, Arndt A; Bauer, Peter P; Schröder, Sabine S; Cerkauskiene, Rimante R
Publication Date: 2022

Variant appearance in text: COL4A5: 347delC; Pro116Glnfs*39
PubMed Link: 35419377
Variant Present in the following documents:
  • Main text
  • fmed-09-859521.pdf
  • Data_Sheet_1.pdf
View BVdb publication page