COL4A5 c.626C>T ;(p.P209L)

Variant ID: X-107821198-C-T

NM_033380.2(COL4A5):c.626C>T;(p.P209L)

This variant was identified in 1 publication

View GRCh38 version.




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: 626C>T; Pro209Leu
PubMed Link: 33712733
Variant Present in the following documents:
  • Main text
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