COL4A5 c.1852_1854del ;(p.G618del)

Variant ID: X-107842004-AGGG-A

NM_033380.2(COL4A5):c.1852_1854del;(p.G618del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

Journal Of The American Society Of Nephrology : Jasn
Morinière, Vincent V; Dahan, Karin K; Hilbert, Pascale P; Lison, Marieline M; Lebbah, Said S; Topa, Alexandra A; Bole-Feysot, Christine C; Pruvost, Solenn S; Nitschke, Patrick P; Plaisier, Emmanuelle E; Knebelmann, Bertrand B; Macher, Marie-Alice MA; Noel, Laure-Hélène LH; Gubler, Marie-Claire MC; Antignac, Corinne C; Heidet, Laurence L
Publication Date: 2014-12

Variant appearance in text: COL4A5: Gly618del
PubMed Link: 24854265
Variant Present in the following documents:
  • Main text
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