COL4A5 c.1334del ;(p.P445Lfs*29)

Variant ID: X-107834454-TC-T

NM_033380.2(COL4A5):c.1334del;(p.P445Lfs*29)

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:

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.

Human Molecular Genetics
Zoppi, Nicoletta N; Chiarelli, Nicola N; Cinquina, Valeria V; Ritelli, Marco M; Colombi, Marina M
Publication Date: 2015-12-01

Variant appearance in text: ATS: 1334del
PubMed Link: 26376865
Variant Present in the following documents:
  • Main text
  • ddv382.pdf
View BVdb publication page