Bibliome.ai browser hg19
Search
About
Stats
FAQ
COL4A5 c.4244_4245delinsAC ;(p.G1415D)
Variant ID: X-107929288-GA-AC
NM_033380.2(
COL4A5
):c.4244_4245delinsAC;(p.G1415D)
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:
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ
Publication Date: 2020-06
Variant appearance in text: COL4A5: Gly1415Asp
PubMed Link:
32203225
Variant Present in the following documents:
Main text
41436_2020_Article_772.pdf
View BVdb publication page