LDLR c.1014C>G ;(p.C338W)

Variant ID: 19-11221401-C-G

NM_000527.4(LDLR):c.1014C>G;(p.C338W)

This variant was identified in 1 publication

View GRCh38 version.



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

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: 1014C>G; Cys338Trp
PubMed Link: 33732287
Variant Present in the following documents:
  • Main text
  • fgene-12-625959.pdf
View BVdb publication page