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LMNB2 c.815G>A ;(p.R272Q)
Variant ID: 19-2435039-C-T
NM_032737.3(
LMNB2
):c.815G>A;(p.R272Q)
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:
SMAP is a pipeline for sample matching in proteogenomics.
Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08
Variant appearance in text: LMNB2: R272Q
PubMed Link:
35136070
Variant Present in the following documents:
41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.
Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30
Variant appearance in text: LMNB2: R272Q
PubMed Link:
33256598
Variant Present in the following documents:
12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page