HP c.775A>G ;(p.N259D)

Variant ID: 16-72094343-A-G

NM_005143.3(HP):c.775A>G;(p.N259D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: HP: 775A>G
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Insights into the evolution of longevity from the bowhead whale genome.

Cell Reports
Keane, Michael M; Semeiks, Jeremy J; Webb, Andrew E AE; Li, Yang I YI; Quesada, Víctor V; Craig, Thomas T; Madsen, Lone Bruhn LB; van Dam, Sipko S; Brawand, David D; Marques, Patrícia I PI; Michalak, Pawel P; Kang, Lin L; Bhak, Jong J; Yim, Hyung-Soon HS; Grishin, Nick V NV; Nielsen, Nynne Hjort NH; Heide-Jørgensen, Mads Peter MP; Oziolor, Elias M EM; Matson, Cole W CW; Church, George M GM; Stuart, Gary W GW; Patton, John C JC; George, J Craig JC; Suydam, Robert R; Larsen, Knud K; López-Otín, Carlos C; O'Connell, Mary J MJ; Bickham, John W JW; Thomsen, Bo B; de Magalhães, João Pedro JP
Publication Date: 2015-01-06

Variant appearance in text: HP: N259D
PubMed Link: 25565328
Variant Present in the following documents:
  • mmc1.pdf
  • mmc4.pdf
View BVdb publication page