LRP4 c.1816G>A ;(p.D606N)

Variant ID: 11-46911927-C-T

NM_002334.3(LRP4):c.1816G>A;(p.D606N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: LRP4: D606N
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Prenatal Diagnosis
Stals, Karen L KL; Wakeling, Matthew M; Baptista, Júlia J; Caswell, Richard R; Parrish, Andrew A; Rankin, Julia J; Tysoe, Carolyn C; Jones, Garan G; Gunning, Adam C AC; Lango Allen, Hana H; Bradley, Lisa L; Brady, Angela F AF; Carley, Helena H; Carmichael, Jenny J; Castle, Bruce B; Cilliers, Deirdre D; Cox, Helen H; Deshpande, Charu C; Dixit, Abhijit A; Eason, Jacqueline J; Elmslie, Frances F; Fry, Andrew E AE; Fryer, Alan A; Holder, Muriel M; Homfray, Tessa T; Kivuva, Emma E; McKay, Victoria V; Newbury-Ecob, Ruth R; Parker, Michael M; Savarirayan, Ravi R; Searle, Claire C; Shannon, Nora N; Shears, Deborah D; Smithson, Sarah S; Thomas, Ellen E; Turnpenny, Peter D PD; Varghese, Vinod V; Vasudevan, Pradeep P; Wakeling, Emma E; Baple, Emma L EL; Ellard, Sian S
Publication Date: 2018-01

Variant appearance in text: LRP4: Asp606Asn
PubMed Link: 29096039
Variant Present in the following documents:
  • Main text
  • PD-38-33-s002.xlsx, sheet 1
  • PD-38-33.pdf
View BVdb publication page