LDLR c.1857T>G ;(p.F619L)

Variant ID: 19-11230779-T-G

NM_000527.4(LDLR):c.1857T>G;(p.F619L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: F619L
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics
Huang, Chin-Chou CC; Charng, Min-Ji MJ
Publication Date: 2020

Variant appearance in text: LDLR: F619L
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
  • fgene-11-00833.pdf
View BVdb publication page