LDLR c.1436T>A ;(p.L479Q)

Variant ID: 19-11224288-T-A

NM_000527.4(LDLR):c.1436T>A;(p.L479Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.

Frontiers In Genetics
Moradi, Arman A; Maleki, Majid M; Ghaemmaghami, Zahra Z; Khajali, Zahra Z; Noohi, Feridoun F; Moghadam, Maryam Hosseini MH; Kalyinia, Samira S; Mowla, Seyed Javad SJ; Seidah, Nabil G NG; Malakootian, Mahshid M
Publication Date: 2021

Variant appearance in text: LDLR: 1436T>A; Leu479Gln
PubMed Link: 33732287
Variant Present in the following documents:
  • Main text
  • fgene-12-625959.pdf
View BVdb publication page



The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.

Scientific Reports
Fairoozy, R H RH; Futema, M M; Vakili, R R; Abbaszadegan, M R MR; Hosseini, S S; Aminzadeh, M M; Zaeri, H H; Mobini, M M; Humphries, S E SE; Sahebkar, A A
Publication Date: 2017-12-06

Variant appearance in text: LDLR: Leu479Gln
PubMed Link: 29213121
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_17181.pdf
View BVdb publication page