LRP6 c.1620G>T ;(p.L540F)

Variant ID: 12-12318155-C-A

NM_002336.2(LRP6):c.1620G>T;(p.L540F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ockeloen, Charlotte W CW; Khandelwal, Kriti D KD; Dreesen, Karoline K; Ludwig, Kerstin U KU; Sullivan, Robert R; van Rooij, Iris A L M IALM; Thonissen, Michelle M; Swinnen, Steven S; Phan, Milien M; Conte, Federica F; Ishorst, Nina N; Gilissen, Christian C; RoaFuentes, Laury L; van de Vorst, Maartje M; Henkes, Arjen A; Steehouwer, Marloes M; van Beusekom, Ellen E; Bloemen, Marjon M; Vankeirsbilck, Bruno B; Bergé, Stefaan S; Hens, Greet G; Schoenaers, Joseph J; Poorten, Vincent Vander VV; Roosenboom, Jasmien J; Verdonck, An A; Devriendt, Koen K; Roeleveldt, Nel N; Jhangiani, Shalini N SN; Vissers, Lisenka E L M LELM; Lupski, James R JR; de Ligt, Joep J; Von den Hoff, Johannes W JW; Pfundt, Rolph R; Brunner, Han G HG; Zhou, Huiqing H; Dixon, Jill J; Mangold, Elisabeth E; van Bokhoven, Hans H; Dixon, Michael J MJ; Kleefstra, Tjitske T; Hoischen, Alexander A; Carels, Carine E L CEL
Publication Date: 2016-11

Variant appearance in text: LRP6: 1620G>T; Leu540Phe
PubMed Link: 26963285
Variant Present in the following documents:
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