HIVEP1 c.41-29463G>A

Variant ID: 6-12059954-G-A

NM_002114.2(HIVEP1):c.41-29463G>A

This variant was identified in 17 publications

View GRCh38 version.




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: rs13218440
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Sequencing of human identification markers in an Uyghur population using the MiSeq FGxTM Forensic Genomics System.

Forensic Sciences Research
Simayijiang, Halimureti H; Morling, Niels N; Børsting, Claus C
Publication Date: 2022

Variant appearance in text: rs13218440
PubMed Link: 35784409
Variant Present in the following documents:
  • Main text
  • TFSR_7_1779967.pdf
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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: HIVEP1: 41-29463G>A; rs13218440
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive Insights Into Forensic Features and Genetic Background of Chinese Northwest Hui Group Using Six Distinct Categories of 231 Molecular Markers.

Frontiers In Genetics
Chen, Chong C; Jin, Xiaoye X; Zhang, Xingru X; Zhang, Wenqing W; Guo, Yuxin Y; Tao, Ruiyang R; Chen, Anqi A; Xu, Qiannan Q; Li, Min M; Yang, Yue Y; Zhu, Bofeng B
Publication Date: 2021

Variant appearance in text: rs13218440
PubMed Link: 34721519
Variant Present in the following documents:
  • Main text
  • fgene-12-705753.pdf
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Forensic nanopore sequencing of STRs and SNPs using Verogen's ForenSeq DNA Signature Prep Kit and MinION.

International Journal Of Legal Medicine
Ren, Zi-Lin ZL; Zhang, Jia-Rong JR; Zhang, Xiao-Meng XM; Liu, Xu X; Lin, Yan-Feng YF; Bai, Hua H; Wang, Meng-Chun MC; Cheng, Feng F; Liu, Jin-Ding JD; Li, Peng P; Kong, Lei L; Bo, Xiao-Chen XC; Wang, Sheng-Qi SQ; Ni, Ming M; Yan, Jiang-Wei JW
Publication Date: 2021-09

Variant appearance in text: rs13218440
PubMed Link: 33950286
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.

Plos One
Zhuo, Xinming X; Wang, Qun Q; Vossaert, Liesbeth L; Salman, Roseen R; Kim, Adriel A; Van den Veyver, Ignatia I; Breman, Amy A; Beaudet, Arthur A
Publication Date: 2021

Variant appearance in text: rs13218440
PubMed Link: 33857205
Variant Present in the following documents:
  • Main text
  • pone.0249695.pdf
View BVdb publication page



Evaluation of OpenArray™ as a Genotyping Method for Forensic DNA Phenotyping and Human Identification.

Genes
Ragazzo, Michele M; Puleri, Giulio G; Errichiello, Valeria V; Manzo, Laura L; Luzzi, Laura L; Potenza, Saverio S; Strafella, Claudia C; Peconi, Cristina C; Nicastro, Fabio F; Caputo, Valerio V; Giardina, Emiliano E
Publication Date: 2021-02-03

Variant appearance in text: rs13218440
PubMed Link: 33546406
Variant Present in the following documents:
  • Main text
  • genes-12-00221.pdf
View BVdb publication page



Confirmation of Paternity despite Three Genetic Incompatibilities at Chromosome 2.

Genes
Doniec, Andrzej A; Łuczak, Wojciech W; Wróbel, Maria M; Januła, Miłosz M; Ossowski, Andrzej A; Grzmil, Paweł P; Kupiec, Tomasz T
Publication Date: 2021-01-04

Variant appearance in text: rs13218440
PubMed Link: 33406744
Variant Present in the following documents:
  • Main text
  • genes-12-00062.pdf
View BVdb publication page



The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer
Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S
Publication Date: 2021-03

Variant appearance in text: HIVEP1: 41-29463G>A; rs13218440
PubMed Link: 33402737
Variant Present in the following documents:
  • 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Inter-laboratory study on standardized MPS libraries: evaluation of performance, concordance, and sensitivity using mixtures and degraded DNA.

International Journal Of Legal Medicine
Müller, Petra P; Sell, Christian C; Hadrys, Thorsten T; Hedman, Johannes J; Bredemeyer, Steffi S; Laurent, Francois-Xavier FX; Roewer, Lutz L; Achtruth, Sabrina S; Sidstedt, Maja M; Sijen, Titia T; Trimborn, Marc M; Weiler, Natalie N; Willuweit, Sascha S; Bastisch, Ingo I; Parson, Walther W; ,
Publication Date: 2020-01

Variant appearance in text: rs13218440
PubMed Link: 31745634
Variant Present in the following documents:
  • Main text
  • 414_2019_Article_2201.pdf
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Genome-wide screen for universal individual identification SNPs based on the HapMap and 1000 Genomes databases.

Scientific Reports
Huang, Erwen E; Liu, Changhui C; Zheng, Jingjing J; Han, Xiaolong X; Du, Weian W; Huang, Yuanjian Y; Li, Chengshi C; Wang, Xiaoguang X; Tong, Dayue D; Ou, Xueling X; Sun, Hongyu H; Zeng, Zhaoshu Z; Liu, Chao C
Publication Date: 2018-04-03

Variant appearance in text: rs13218440
PubMed Link: 29615764
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_23888.pdf
View BVdb publication page



Qualitative and quantitative assessment of Illumina's forensic STR and SNP kits on MiSeq FGx™.

Plos One
Sharma, Vishakha V; Chow, Hoi Yan HY; Siegel, Donald D; Wurmbach, Elisa E
Publication Date: 2017

Variant appearance in text: rs13218440
PubMed Link: 29121662
Variant Present in the following documents:
  • Main text
  • pone.0187932.pdf
View BVdb publication page



Simultaneous genomic identification and profiling of a single cell using semiconductor-based next generation sequencing.

Applied & Translational Genomics
Watanabe, Manabu M; Kusano, Junko J; Ohtaki, Shinsaku S; Ishikura, Takashi T; Katayama, Jin J; Koguchi, Akira A; Paumen, Michael M; Hayashi, Yoshiharu Y
Publication Date: 2014-09-01

Variant appearance in text: rs13218440
PubMed Link: 27294018
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Parallel Analysis of 124 Universal SNPs for Human Identification by Targeted Semiconductor Sequencing.

Scientific Reports
Zhang, Suhua S; Bian, Yingnan Y; Zhang, Zheren Z; Zheng, Hancheng H; Wang, Zheng Z; Zha, Lagabaiyila L; Cai, Jifeng J; Gao, Yuzhen Y; Ji, Chaoneng C; Hou, Yiping Y; Li, Chengtao C
Publication Date: 2015-12-22

Variant appearance in text: rs13218440
PubMed Link: 26691610
Variant Present in the following documents:
  • Main text
  • srep18683.pdf
View BVdb publication page



Bone marrow chimerism detection using next generation sequencing based on single nucleotide polymorphisms following liver transplantation: comparison with short tandem repeat-PCR.

Annals Of Laboratory Medicine
Kim, Jieun J; Hwang, In Sik IS; Kim, Hyon Suk HS; Joo, Dong Jin DJ; Hong, Kyung Ran KR; Choi, Jong Rak JR
Publication Date: 2016-01

Variant appearance in text: rs13218440
PubMed Link: 26522768
Variant Present in the following documents:
  • Main text
  • alm-36-82.pdf
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Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Gu, Wei W; Koh, Winston W; Blumenfeld, Yair J YJ; El-Sayed, Yasser Y YY; Hudgins, Louanne L; Hintz, Susan R SR; Quake, Stephen R SR
Publication Date: 2014-07

Variant appearance in text: rs13218440
PubMed Link: 24406457
Variant Present in the following documents:
  • Main text
  • nihms571298.pdf
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Allele frequencies for 40 autosomal SNP loci typed for US population samples using electrospray ionization mass spectrometry.

Croatian Medical Journal
Kiesler, Kevin M KM; Vallone, Peter M PM
Publication Date: 2013-06

Variant appearance in text: rs13218440
PubMed Link: 23771752
Variant Present in the following documents:
  • Main text
  • CroatMedJ_54_0225.pdf
View BVdb publication page