ELN c.1315+17C>T

Variant ID: 7-73470782-C-T

NM_000501.3(ELN):c.1315+17C>T

This variant was identified in 13 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: rs2856728
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ELN: 1315+17C>T; rs2856728
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2856728
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: ELN: 1315+17C>T; rs2856728
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: ELN: 1315+17C>T; rs2856728
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs2856728
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ELN: 1315+17C>T; rs2856728
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine
Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA
Publication Date: 2018-09

Variant appearance in text: rs2856728
PubMed Link: 30008175
Variant Present in the following documents:
  • MGG3-6-749-s003.xlsx, sheet 1
View BVdb publication page



Genetic Risk Assessment of Elastin Gene Polymorphisms with Intracranial Aneurysm in Koreans.

Neurologia Medico-Chirurgica
Jeon, Jin Pyeong JP; Hong, Eun Pyo EP; Kim, Jeong Eun JE; Ha, Eun Jin EJ; Cho, Won-Sang WS; Son, Young-Je YJ; Bang, Jae Seung JS; Oh, Chang Wan CW
Publication Date: 2018-01-15

Variant appearance in text: rs2856728
PubMed Link: 29129841
Variant Present in the following documents:
  • Main text
  • nmc-58-17.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2856728
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



The association of elastin gene variants with two angiographic subtypes of polypoidal choroidal vasculopathy.

Plos One
Yanagisawa, Suiho S; Sakurada, Yoichi Y; Miki, Akiko A; Matsumiya, Wataru W; Imoto, Issei I; Honda, Shigeru S
Publication Date: 2015

Variant appearance in text: rs2856728
PubMed Link: 25775011
Variant Present in the following documents:
  • Main text
  • pone.0120643.pdf
View BVdb publication page



Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Orphanet Journal Of Rare Diseases
Morimoto, Marie M; Yu, Zhongxin Z; Stenzel, Peter P; Clewing, J Marietta JM; Najafian, Behzad B; Mayfield, Christy C; Hendson, Glenda G; Weinkauf, Justin G JG; Gormley, Andrew K AK; Parham, David M DM; Ponniah, Umakumaran U; André, Jean-Luc JL; Asakura, Yumi Y; Basiratnia, Mitra M; Bogdanović, Radovan R; Bokenkamp, Arend A; Bonneau, Dominique D; Buck, Anna A; Charrow, Joel J; Cochat, Pierre P; Cordeiro, Isabel I; Deschenes, Georges G; Fenkçi, M Semin MS; Frange, Pierre P; Fründ, Stefan S; Fryssira, Helen H; Guillen-Navarro, Encarna E; Keller, Kory K; Kirmani, Salman S; Kobelka, Christine C; Lamfers, Petra P; Levtchenko, Elena E; Lewis, David B DB; Massella, Laura L; McLeod, D Ross DR; Milford, David V DV; Nobili, François F; Saraiva, Jorge M JM; Semerci, C Nur CN; Shoemaker, Lawrence L; Stajić, Nataša N; Stein, Anja A; Taha, Doris D; Wand, Dorothea D; Zonana, Jonathan J; Lücke, Thomas T; Boerkoel, Cornelius F CF
Publication Date: 2012-09-22

Variant appearance in text: ELN: 1315+17C>T; rs2856728
PubMed Link: 22998683
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-70.pdf
View BVdb publication page



Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease.

American Journal Of Respiratory Cell And Molecular Biology
Cho, Michael H MH; Ciulla, Dawn M DM; Klanderman, Barbara J BJ; Hersh, Craig P CP; Litonjua, Augusto A AA; Sparrow, David D; Raby, Benjamin A BA; Silverman, Edwin K EK
Publication Date: 2009-06

Variant appearance in text: rs2856728
PubMed Link: 19029017
Variant Present in the following documents:
  • Main text
View BVdb publication page