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