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NF1 c.4836-23512A>G
Variant ID: 17-29629326-A-G
NM_001042492.2(
NF1
):c.4836-23512A>G
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:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs11080150
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.
Jama Cardiology
Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR
Publication Date: 2020-04-01
Variant appearance in text: rs11080150
PubMed Link:
32049305
Variant Present in the following documents:
jamacardiol-5-390-s001.pdf
View BVdb publication page
Causal Inference for Genetically Determined Levels of High-Density Lipoprotein Cholesterol and Risk of Infectious Disease.
Arteriosclerosis, Thrombosis, And Vascular Biology
Trinder, Mark M; Walley, Keith R KR; Boyd, John H JH; Brunham, Liam R LR
Publication Date: 2020-01
Variant appearance in text: rs11080150
PubMed Link:
31694394
Variant Present in the following documents:
atv-40-267-s002.pdf
View BVdb publication page
The transferability of lipid loci across African, Asian and European cohorts.
Nature Communications
Kuchenbaecker, Karoline K; Telkar, Nikita N; Reiker, Theresa T; Walters, Robin G RG; Lin, Kuang K; Eriksson, Anders A; Gurdasani, Deepti D; Gilly, Arthur A; Southam, Lorraine L; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Seeley, Janet J; Kamali, Anatoli A; Asiki, Gershim G; Millwood, Iona Y IY; Holmes, Michael M; Du, Huaidong H; Guo, Yu Y; Kumari, Meena M; Dedoussis, George G; Li, Liming L; Chen, Zhengming Z; Sandhu, Manjinder S MS; Zeggini, Eleftheria E; ,
Publication Date: 2019-09-24
Variant appearance in text: rs11080150
PubMed Link:
31551420
Variant Present in the following documents:
41467_2019_12026_MOESM1_ESM.pdf
View BVdb publication page