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COL4A5 c.1217del ;(p.G406Vfs*68)
Variant ID: X-107834335-AG-A
NM_033380.2(
COL4A5
):c.1217del;(p.G406Vfs*68)
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:
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Schapiro, David D; Daga, Ankana A; Lawson, Jennifer A JA; Majmundar, Amar J AJ; Lovric, Svjetlana S; Tan, Weizhen W; Warejko, Jillian K JK; Fessi, Inés I; Rao, Jia J; Airik, Merlin M; Gee, Heon Yung HY; Schneider, Ronen R; Widmeier, Eugen E; Hermle, Tobias T; Ashraf, Shazia S; Jobst-Schwan, Tilman T; van der Ven, Amelie T AT; Nakayama, Makiko M; Shril, Shirlee S; Braun, Daniela A DA; Hildebrandt, Friedhelm F
Publication Date: 2019-03-01
Variant appearance in text: COL4A5: 1217del
PubMed Link:
30295827
Variant Present in the following documents:
Main text
View BVdb publication page