HR c.1824C>T ;(p.F608=)

Variant ID: 8-21981253-G-A

NM_005144.4(HR):c.1824C>T;(p.F608=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Identification of common cardiometabolic alterations and deregulated pathways in mouse and pig models of aging.

Aging Cell
Fanjul, Víctor V; Jorge, Inmaculada I; Camafeita, Emilio E; Macías, Álvaro Á; González-Gómez, Cristina C; Barettino, Ana A; Dorado, Beatriz B; Andrés-Manzano, María Jesús MJ; Rivera-Torres, José J; Vázquez, Jesús J; López-Otín, Carlos C; Andrés, Vicente V
Publication Date: 2020-09

Variant appearance in text: HR: 1824C>T
PubMed Link: 32729659
Variant Present in the following documents:
  • ACEL-19-e13203-s001.pdf
View BVdb publication page



A case report of multiple primary prostate tumors with differential drug sensitivity.

Nature Communications
Wilkinson, Scott S; Harmon, Stephanie A SA; Terrigino, Nicholas T NT; Karzai, Fatima F; Pinto, Peter A PA; Madan, Ravi A RA; VanderWeele, David J DJ; Lake, Ross R; Atway, Rayann R; Bright, John R JR; Carrabba, Nicole V NV; Trostel, Shana Y SY; Lis, Rosina T RT; Chun, Guinevere G; Gulley, James L JL; Merino, Maria J MJ; Choyke, Peter L PL; Ye, Huihui H; Dahut, William L WL; Turkbey, Baris B; Sowalsky, Adam G AG
Publication Date: 2020-02-13

Variant appearance in text: HR: F608F
PubMed Link: 32054861
Variant Present in the following documents:
  • 41467_2020_14657_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.

Mechanisms Of Ageing And Development
Oshima, Junko J; Kato, Hisaya H; Maezawa, Yoshiro Y; Yokote, Koutaro K
Publication Date: 2018-07

Variant appearance in text: HR: 1824C>T
PubMed Link: 29752965
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome.

Jama
Gordon, Leslie B LB; Shappell, Heather H; Massaro, Joe J; D'Agostino, Ralph B RB; Brazier, Joan J; Campbell, Susan E SE; Kleinman, Monica E ME; Kieran, Mark W MW
Publication Date: 2018-04-24

Variant appearance in text: HR: 1824C>T
PubMed Link: 29710166
Variant Present in the following documents:
  • Main text
View BVdb publication page