LDLR c.895G>A ;(p.A299T)

Variant ID: 19-11218145-G-A

NM_000527.4(LDLR):c.895G>A;(p.A299T)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: 895G>A; Ala299Thr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page


Advancing Prediction of Pathogenicity of Familial Hypercholesterolemia LDL Receptor Commonest Variants With Machine Learning Models.

Jacc. Basic To Translational Science
Santos, Raul D RD
Publication Date: 2021-11

Variant appearance in text: LDLR: Ala299Thr
PubMed Link: 34869945
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page


Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences
Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Galicia-Garcia, Unai U; Ostolaza, Helena H; Martin, Cesar C
Publication Date: 2018-06-05

Variant appearance in text: LDLR: 895G>A; Ala299Thr
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
  • ijms-19-01676.pdf
View BVdb publication page


The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.

Journal Of Medical Genetics
Leigh, Sarah S; Futema, Marta M; Whittall, Ros R; Taylor-Beadling, Alison A; Williams, Maggie M; den Dunnen, Johan T JT; Humphries, Steve E SE
Publication Date: 2017-04

Variant appearance in text: LDLR: 895G>A; Ala299Thr
PubMed Link: 27821657
Variant Present in the following documents:
  • Main text
  • jmedgenet-2016-104054.pdf
View BVdb publication page