LDLR c.1123_1124insGA ;(p.Y375*)

Variant ID: 19-11222252-T-TGA

NM_000527.4(LDLR):c.1123_1124insGA;(p.Y375*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Frontiers In Genetics
Tada, Hayato H; Kojima, Nobuko N; Yamagami, Kan K; Nomura, Akihiro A; Nohara, Atsushi A; Usui, Soichiro S; Sakata, Kenji K; Fujino, Noboru N; Takamura, Masayuki M; Kawashiri, Masa-Aki MA
Publication Date: 2022

Variant appearance in text: LDLR: 1123_1124insGA; Tyr375Ter
PubMed Link: 35480308
Variant Present in the following documents:
  • Presentation1.pdf
View BVdb publication page