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LDLR c.478T>G ;(p.C160G)
Variant ID: 19-11216060-T-G
NM_000527.4(
LDLR
):c.478T>G;(p.C160G)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Analysis of the low density lipoprotein receptor gene (LDLR) mutation spectrum in Russian familial hypercholesterolemia.
Vavilovskii Zhurnal Genetiki I Selektsii
Vasilyev, V B VB; Zakharova, F M FM; Bogoslovskaya, T Yu TY; Mandelshtam, M Yu MY
Publication Date: 2022-05
Variant appearance in text: LDLR: 478T>G; Cys160Gly; rs879254540
PubMed Link:
35774363
Variant Present in the following documents:
VJGB-26-2238.pdf
View BVdb publication page
Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.
Biomedical Journal
Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H
Publication Date: 2022-04
Variant appearance in text: LDLR: C160G
PubMed Link:
35550340
Variant Present in the following documents:
mmc1.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: 478T>G; Cys160Gly; rs879254540
PubMed Link:
33418990
Variant Present in the following documents:
Main text
View BVdb publication page
Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.
Frontiers In Genetics
Vasilyev, Vadim V; Zakharova, Faina F; Bogoslovskay, Tatiana T; Mandelshtam, Mikhail M
Publication Date: 2020
Variant appearance in text: LDLR: 478T>G; Cys160Gly
PubMed Link:
33391333
Variant Present in the following documents:
Main text
fgene-11-550591.pdf
View BVdb publication page