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LDLR c.1834G>A ;(p.A612T)
Variant ID: 19-11227663-G-A
NM_000527.4(
LDLR
):c.1834G>A;(p.A612T)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.
Experimental Hematology & Oncology
Li, Shan-Shan SS; Zhai, Xiao-Hui XH; Liu, Hai-Ling HL; Liu, Ting-Zhi TZ; Cao, Tai-Yuan TY; Chen, Dong-Mei DM; Xiao, Le-Xin LX; Gan, Xiao-Qin XQ; Cheng, Ke K; Hong, Wan-Jia WJ; Huang, Yan Y; Lian, Yi-Fan YF; Xiao, Jian J
Publication Date: 2022-10-15
Variant appearance in text: LDLR: 1834G>A; Ala612Thr
PubMed Link:
36243813
Variant Present in the following documents:
40164_2022_325_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Genes
Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O
Publication Date: 2021-01-06
Variant appearance in text: LDLR: 1834G>A
PubMed Link:
33418990
Variant Present in the following documents:
Main text
genes-12-00066.pdf
View BVdb publication page
Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.
Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; BrĂ¼nner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10
Variant appearance in text: LDLR: 1834G>A; A612T
PubMed Link:
29127303
Variant Present in the following documents:
41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page