LDLR c.1855T>A ;(p.F619I)

Variant ID: 19-11230777-T-A

NM_000527.4(LDLR):c.1855T>A;(p.F619I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 1855T>A
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
  • fgene-11-00833.pdf
View BVdb publication page



Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Lipids In Health And Disease
Paththinige, C S CS; Rajapakse, J R D K JRDK; Constantine, G R GR; Sem, K P KP; Singaraja, R R RR; Jayasekara, R W RW; Dissanayake, V H W VHW
Publication Date: 2018-05-02

Variant appearance in text: LDLR: 1855T>A
PubMed Link: 29720182
Variant Present in the following documents:
  • 12944_2018_Article_763.pdf
View BVdb publication page