ENG c.14C>T ;(p.T5M)

Variant ID: 9-130616621-G-A

NM_001114753.2(ENG):c.14C>T;(p.T5M)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: ENG: T5M; rs35400405
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 5
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.

Frontiers In Genetics
About, Frédégonde F; Bibert, Stéphanie S; Jouanguy, Emmanuelle E; Nalpas, Bertrand B; Lorenzo, Lazaro L; Rattina, Vimel V; Zarhrate, Mohammed M; Hanein, Sylvain S; Munteanu, Mona M; Müllhaupt, Beat B; Semela, David D; Semmo, Nasser N; Casanova, Jean-Laurent JL; Theodorou, Ioannis I; Sultanik, Philippe P; Poynard, Thierry T; Pol, Stanislas S; Bochud, Pierre-Yves PY; Cobat, Aurélie A; Abel, Laurent L; , ; ,
Publication Date: 2019

Variant appearance in text: ENG: 14C>T; rs35400405
PubMed Link: 31749832
Variant Present in the following documents:
  • Main text
  • fgene-10-01024.pdf
  • DataSheet_1.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: ENG: 14C>T; T5M
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: ENG: 14C>T; Thr5Met
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: ENG: T5M; rs35400405
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs35400405
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



CBLN2 rs2217560 was Associated with Pulmonary Arterial Hypertension in Systemic Lupus Erythematosus.

Chinese Medical Journal
Huang, Can C; Yang, Jun J; Li, Meng-Tao MT; Wang, Qian Q; Zhao, Jiu-Liang JL; Yang, Xiao-Xi XX; Tian, Zhuang Z; Liu, Yong-Tai YT; Guo, Xiao-Xiao XX; Wang, Hui H; Lai, Jin-Zhi JZ; Xing, Yan-Jiang YJ; Zeng, Xiao-Feng XF
Publication Date: 2018-12-20

Variant appearance in text: rs35400405
PubMed Link: 30539924
Variant Present in the following documents:
  • CMJ-131-3020.pdf
View BVdb publication page



A systematic review of genetic mutations in pulmonary arterial hypertension.

Bmc Medical Genetics
Garcia-Rivas, Gerardo G; Jerjes-Sánchez, Carlos C; Rodriguez, David D; Garcia-Pelaez, José J; Trevino, Victor V
Publication Date: 2017-08-02

Variant appearance in text: ENG: 14C>T; Thr5Met
PubMed Link: 28768485
Variant Present in the following documents:
  • 12881_2017_440_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: ENG: 14C>T; Thr5Met
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs35400405
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.

Molecular Genetics & Genomic Medicine
Vattulainen, Sanna S; Aho, Joonas J; Salmenperä, Pertteli P; Bruce, Siina S; Tallila, Jonna J; Gentile, Massimiliano M; Sankelo, Marja M; Laitinen, Tarja T; Koskenvuo, Juha W JW; Alastalo, Tero-Pekka TP; Myllykangas, Samuel S
Publication Date: 2015-07

Variant appearance in text: ENG: 14C>T; Thr5Met; rs35400405
PubMed Link: 26247051
Variant Present in the following documents:
  • Main text
  • mgg30003-0354.pdf
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: rs35400405
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs35400405
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.

Bmc Medical Genetics
Fontalba, Ana A; Fernandez-L, Africa A; García-Alegria, Eva E; Albiñana, Virginia V; Garrido-Martin, Eva M EM; Blanco, Francisco J FJ; Zarrabeitia, Roberto R; Perez-Molino, Alfonso A; Bernabeu-Herrero, Maria E ME; Ojeda, Maria-Luisa ML; Fernandez-Luna, Jose L JL; Bernabeu, Carmelo C; Botella, Luisa M LM
Publication Date: 2008-08-01

Variant appearance in text: ENG: 14C>T; T5M
PubMed Link: 18673552
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-75-S1.xls, sheet 1
  • 1471-2350-9-75.pdf
View BVdb publication page



Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02

Variant appearance in text:
PubMed Link: 15879500
Variant Present in the following documents:
  • Main text
View BVdb publication page