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LDLR c.1120G>A ;(p.G374S)
Variant ID: 19-11222249-G-A
NM_000527.4(
LDLR
):c.1120G>A;(p.G374S)
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:
Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.
Journal Of The American Heart Association
Resdal Dyssekilde, Johnni J; Frederiksen, Tanja Charlotte TC; Christiansen, Morten Krogh MK; Hasle Sørensen, Rikke R; Pedersen, Lisbeth Nørum LN; Loof Møller, Peter P; Christensen, Lene Svendstrup LS; Larsen, Jacob Moesgaard JM; Thomsen, Kristian Korsgaard KK; Lindhardt, Tommi Bo TB; Böttcher, Morten M; Molsted, Stig S; Havndrup, Ole O; Fischer, Thomas T; Møller, Dorthe Svenstrup DS; Henriksen, Finn Lund FL; Johansen, Jens Brock JB; Nielsen, Jens Cosedis JC; Bundgaard, Henning H; Nygaard, Mette M; Jensen, Henrik Kjærulf HK
Publication Date: 2022-05-03
Variant appearance in text: LDLR: 1120G>A
PubMed Link:
35470684
Variant Present in the following documents:
JAH3-11-e025643.pdf
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: 1120G>A
PubMed Link:
33418990
Variant Present in the following documents:
Main text
genes-12-00066.pdf
View BVdb publication page
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.
Journal Of Medical Genetics
Leigh, Sarah S; Futema, Marta M; Whittall, Ros R; Taylor-Beadling, Alison A; Williams, Maggie M; den Dunnen, Johan T JT; Humphries, Steve E SE
Publication Date: 2017-04
Variant appearance in text: LDLR: Gly374Ser
PubMed Link:
27821657
Variant Present in the following documents:
Main text
jmedgenet-2016-104054.pdf
View BVdb publication page