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COL4A5 c.3970_3972delinsAGC ;(p.G1324S)
Variant ID: X-107923936-GGA-AGC
NM_033380.2(
COL4A5
):c.3970_3972delinsAGC;(p.G1324S)
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:
Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.
Biophysical Journal
Tischer, Alexander A; Madde, Pranathi P; Moon-Tasson, Laurie L; Auton, Matthew M
Publication Date: 2014-09-02
Variant appearance in text: ATS: G1324S
PubMed Link:
25185554
Variant Present in the following documents:
Main text
View BVdb publication page