COL4A5 c.26C>A ;(p.A9D)

Variant ID: X-107683381-C-A

NM_033380.2(COL4A5):c.26C>A;(p.A9D)

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:

The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Schrezenmeier, Eva E; Kremerskothen, Elisa E; Halleck, Fabian F; Staeck, Oliver O; Liefeldt, Lutz L; Choi, Mira M; Schüler, Markus M; Weber, Ulrike U; Bachmann, Nadine N; Grohmann, Maik M; Wagner, Timo T; Budde, Klemens K; Bergmann, Carsten C
Publication Date: 2021-07

Variant appearance in text: COL4A5: 26C>A
PubMed Link: 33712733
Variant Present in the following documents:
  • Main text
View BVdb publication page