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LRP6 c.4445C>T ;(p.P1482L)
Variant ID: 12-12278234-G-A
NM_002336.2(
LRP6
):c.4445C>T;(p.P1482L)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.
Cells
Wang, Mingqin M; Marco, Patrizia de P; Capra, Valeria V; Kibar, Zoha Z
Publication Date: 2019-10-04
Variant appearance in text: LRP6: Pro1482Leu
PubMed Link:
31590237
Variant Present in the following documents:
Main text
cells-08-01198.pdf
View BVdb publication page
Rare LRP6 variants identified in spina bifida patients.
Human Mutation
Lei, Yunping Y; Fathe, Kristin K; McCartney, Danielle D; Zhu, Huiping H; Yang, Wei W; Ross, M Elizabeth ME; Shaw, Gary M GM; Finnell, Richard H RH
Publication Date: 2015-03
Variant appearance in text: LRP6: 4445C>T; P1482L
PubMed Link:
25546815
Variant Present in the following documents:
Main text
View BVdb publication page