Bibliome.ai browser hg19
Search
About
Stats
FAQ
COL4A5 c.634_636del ;(p.P212del)
Variant ID: X-107821206-TCCA-T
NM_033380.2(
COL4A5
):c.634_636del;(p.P212del)
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:
Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.
Clinical Journal Of The American Society Of Nephrology : Cjasn
Massella, Laura L; Gangemi, Concetta C; Giannakakis, Kostas K; Crisafi, Antonella A; Faraggiana, Tullio T; Fallerini, Chiara C; Renieri, Alessandra A; Muda, Andrea Onetti AO; Emma, Francesco F
Publication Date: 2013-05
Variant appearance in text: COL4A5: Pro212del
PubMed Link:
23371956
Variant Present in the following documents:
Main text
View BVdb publication page