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COL4A5 c.348_349insTCCGG ;(p.G117Sfs*40)
Variant ID: X-107812015-A-ATCCGG
NM_033380.2(
COL4A5
):c.348_349insTCCGG;(p.G117Sfs*40)
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:
Long-term follow-up of an Alport syndrome patient with a novel mutation of COL4A5.
International Journal Of Clinical And Experimental Pathology
Xiang, Rong R; Li, Jing-Jing JJ; Liu, Ji-Shi JS; Fan, Liang-Liang LL; Li, Lin L; Xia, Kun K; Zhang, Hao H
Publication Date: 2017
Variant appearance in text: COL4A5: 348_349insTCCGG; G117Sfs
PubMed Link:
31966729
Variant Present in the following documents:
Main text
View BVdb publication page