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LRP6 c.1099T>A ;(p.Y367N)
Variant ID: 12-12334251-A-T
NM_002336.2(
LRP6
):c.1099T>A;(p.Y367N)
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:
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: 1099T>A; Tyr367Asn
PubMed Link:
26963285
Variant Present in the following documents:
View BVdb publication page