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APOB c.3629G>A ;(p.R1210K)
Variant ID: 2-21238012-C-T
NM_000384.2(
APOB
):c.3629G>A;(p.R1210K)
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:
Whole-exome sequencing in clear cell sarcoma of soft tissue uncovers novel prognostic categorization and drug targets.
Clinical And Translational Medicine
Li, Jingjing J; Chen, Chao C; Liu, Wei W; Liu, Songming S; Hu, Wanming W; Gao, Xiaoyan X; Liu, Geng G; Li, Dandan D; Ding, Ya Y; Wen, Xizhi X; Zhang, Xiuqing X; Hou, Yong Y; Zhang, Xing X; Li, Bo B; Zhang, Xiaoshi X; Zhang, Xi X
Publication Date: 2021-12
Variant appearance in text: APOB: R1210K
PubMed Link:
34923763
Variant Present in the following documents:
CTM2-11-e640-s002.xlsx, sheet 1
View BVdb publication page
Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene.
Cells
Zaragoza, Michael V MV; Nguyen, Cecilia H H CHH; Widyastuti, Halida P HP; McCarthy, Linda A LA; Grosberg, Anna A
Publication Date: 2017-11-01
Variant appearance in text: APOB: 3629G>A; Arg1210Gln
PubMed Link:
29104234
Variant Present in the following documents:
cells-06-00040-s001.pdf
View BVdb publication page