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LDLR c.1306G>A ;(p.V436M)
Variant ID: 19-11224073-G-A
NM_000527.4(
LDLR
):c.1306G>A;(p.V436M)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia.
Journal Of Atherosclerosis And Thrombosis
Tada, Hayato H; Nomura, Akihiro A; Nohara, Atsushi A; Inazu, Akihiro A; Mabuchi, Hiroshi H; Yamagishi, Masakazu M; Kawashiri, Masa-Aki MA
Publication Date: 2018-12-01
Variant appearance in text: LDLR: 1306G>A
PubMed Link:
29998912
Variant Present in the following documents:
Main text
View BVdb publication page
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.
Jimd Reports
Tada, Hayato H; Kawashiri, Masa-Aki MA; Takata, Mutsuko M; Matsunami, Kunihiro K; Imamura, Atsushi A; Matsuyama, Misayo M; Sawada, Hirotake H; Nunoi, Hiroyuki H; Konno, Tetsuo T; Hayashi, Kenshi K; Nohara, Atsushi A; Inazu, Akihiro A; Kobayashi, Junji J; Mabuchi, Hiroshi H; Yamagishi, Masakazu M
Publication Date: 2015
Variant appearance in text: LDLR: 1306G>A
PubMed Link:
25665839
Variant Present in the following documents:
Main text
View BVdb publication page