LDLR c.1603G>A ;(p.D535N)

Variant ID: 19-11226786-G-A

NM_000527.4(LDLR):c.1603G>A;(p.D535N)

This variant was identified in 5 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: 1603G>A; Asp535Asn
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: LDLR: Asp535Asn
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
  • fgene-11-572045.pdf
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: D535N
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: 1603G>A; Asp535Asn
PubMed Link: 32015373
Variant Present in the following documents:
  • 41598_2020_58734_MOESM1_ESM.pdf
View BVdb publication page



Building a family network from genetic testing.

Molecular Genetics & Genomic Medicine
Leppig, Kathleen A KA; Thiese, Heidi A HA; Carrel, David D; Crosslin, David R DR; Dorschner, Michael O MO; Gordon, Adam S AS; Hartzler, Andrea A; Ralston, James J; Scrol, Aaron A; Larson, Eric B EB; Jarvik, Gail P GP
Publication Date: 2017-03

Variant appearance in text: LDLR: 1603G>A
PubMed Link: 28361098
Variant Present in the following documents:
  • Main text
  • MGG3-5-122.pdf
View BVdb publication page