LDLR c.1979A>G ;(p.Q660R)

Variant ID: 19-11230901-A-G

NM_000527.4(LDLR):c.1979A>G;(p.Q660R)

This variant was identified in 6 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: LDLR: 1979A>G; Gln660Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: LDLR: Q660R
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports
Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C
Publication Date: 2020-02-03

Variant appearance in text: LDLR: 1979A>G; Gln660Arg
PubMed Link: 32015373
Variant Present in the following documents:
  • 41598_2020_58734_MOESM1_ESM.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: LDLR: Q660R
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia.

Current Opinion In Lipidology
Pears, Robert R; Griffin, Michael M; Futema, Marta M; Humphries, Steve E SE
Publication Date: 2015-06

Variant appearance in text: LDLR: Gln660Arg
PubMed Link: 25887683
Variant Present in the following documents:
  • colip-26-162.pdf
View BVdb publication page



Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

Journal Of Internal Medicine
Maglio, C C; Mancina, R M RM; Motta, B M BM; Stef, M M; Pirazzi, C C; Palacios, L L; Askaryar, N N; Borén, J J; Wiklund, O O; Romeo, S S
Publication Date: 2014-10

Variant appearance in text: LDLR: Gln660Arg
PubMed Link: 24785115
Variant Present in the following documents:
  • Main text
  • joim0276-0396.pdf
View BVdb publication page