LRP6 c.4622A>G ;(p.Y1541C)

Variant ID: 12-12274280-T-C

NM_002336.2(LRP6):c.4622A>G;(p.Y1541C)

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 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.

Human Molecular Genetics
Allache, Redouane R; Lachance, Stéphanie S; Guyot, Marie Claude MC; De Marco, Patrizia P; Merello, Elisa E; Justice, Monica J MJ; Capra, Valeria V; Kibar, Zoha Z
Publication Date: 2014-04-01

Variant appearance in text: LRP6: Tyr1541Cys
PubMed Link: 24203697
Variant Present in the following documents:
  • Main text
View BVdb publication page