LRP6 c.56C>T ;(p.A19V)

Variant ID: 12-12397589-G-A

NM_002336.2(LRP6):c.56C>T;(p.A19V)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: LRP6: 56C>T; Ala19Val
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Novel LRP6 Mutations Causing Non-Syndromic Oligodontia.

Journal Of Personalized Medicine
Lee, Yejin Y; Chae, Wonseon W; Kim, Youn Jung YJ; Kim, Jung-Wook JW
Publication Date: 2022-08-29

Variant appearance in text: LRP6: 56C>T; Ala19Val
PubMed Link: 36143186
Variant Present in the following documents:
  • jpm-12-01401.pdf
View BVdb publication page



Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans.

Npj Genomic Medicine
Zhang, Liutao L; Yu, Miao M; Sun, Kai K; Fan, Zhuangzhuang Z; Liu, Haochen H; Feng, Hailan H; Liu, Yang Y; Han, Dong D
Publication Date: 2021-11-10

Variant appearance in text: LRP6: 56C>T; Ala19Val
PubMed Link: 34759310
Variant Present in the following documents:
  • 41525_2021_262_MOESM1_ESM.pdf
View BVdb publication page



Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis.

Frontiers In Genetics
Huang, Yan-Xia YX; Gao, Chun-Yan CY; Zheng, Chun-Yan CY; Chen, Xu X; Yan, You-Sheng YS; Sun, Yong-Qing YQ; Dong, Xing-Yue XY; Yang, Kai K; Zhang, Dong-Liang DL
Publication Date: 2021

Variant appearance in text: LRP6: 56C>T; A19V
PubMed Link: 34306029
Variant Present in the following documents:
  • Main text
  • fgene-12-688241.pdf
View BVdb publication page



The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.

Genes
Williams, Meredith A MA; Letra, Ariadne A
Publication Date: 2018-05-16

Variant appearance in text: LRP6: 56C>T; Ala19Val
PubMed Link: 29772684
Variant Present in the following documents:
  • Main text
  • genes-09-00255.pdf
View BVdb publication page



Role of the Wnt signaling molecules in the tooth.

The Japanese Dental Science Review
Tamura, Masato M; Nemoto, Eiji E
Publication Date: 2016-11

Variant appearance in text: LRP6: 56C>T
PubMed Link: 28408959
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

American Journal Of Human Genetics
Massink, Maarten P G MP; Créton, Marijn A MA; Spanevello, Francesca F; Fennis, Willem M M WM; Cune, Marco S MS; Savelberg, Sanne M C SM; Nijman, Isaäc J IJ; Maurice, Madelon M MM; van den Boogaard, Marie-José H MJ; van Haaften, Gijs G
Publication Date: 2015-10-01

Variant appearance in text: LRP6: 56C>T; Ala19Val
PubMed Link: 26387593
Variant Present in the following documents:
  • Main text
View BVdb publication page