TSC2 c.5202T>G ;(p.D1734E)

Variant ID: 16-2138269-T-G

NM_000548.3(TSC2):c.5202T>G;(p.D1734E)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs1748
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
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Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances
Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, ChloƩ C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF
Publication Date: 2020

Variant appearance in text: TSC2: D1734E
PubMed Link: 32904945
Variant Present in the following documents:
  • vdaa088_suppl_supplementary_tables.xlsx, sheet 3
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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: rs1748
PubMed Link: 30008175
Variant Present in the following documents:
  • MGG3-6-749-s004.xlsx, sheet 1
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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Plos Genetics
Tyburczy, Magdalena E ME; Dies, Kira A KA; Glass, Jennifer J; Camposano, Susana S; Chekaluk, Yvonne Y; Thorner, Aaron R AR; Lin, Ling L; Krueger, Darcy D; Franz, David N DN; Thiele, Elizabeth A EA; Sahin, Mustafa M; Kwiatkowski, David J DJ
Publication Date: 2015-11

Variant appearance in text: rs1748
PubMed Link: 26540169
Variant Present in the following documents:
  • Main text
  • pgen.1005637.pdf
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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs1748
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism
Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V
Publication Date: 2013-03-20

Variant appearance in text: N/A
PubMed Link: 23514105
Variant Present in the following documents:
View BVdb publication page



Evidence for population variation in TSC1 and TSC2 gene expression.

Bmc Medical Genetics
Jentarra, Garilyn M GM; Rice, Stephen G SG; Olfers, Shannon S; Saffen, David D; Narayanan, Vinodh V
Publication Date: 2011-02-23

Variant appearance in text: rs1748
PubMed Link: 21345208
Variant Present in the following documents:
  • Main text
View BVdb publication page



Experiences with array-based sequence capture; toward clinical applications.

European Journal Of Human Genetics : Ejhg
Almomani, Rowida R; van der Heijden, Jaap J; Ariyurek, Yavuz Y; Lai, Yuching Y; Bakker, Egbert E; van Galen, Michiel M; Breuning, Martijn H MH; den Dunnen, Johan T JT
Publication Date: 2011-01

Variant appearance in text: rs1748
PubMed Link: 21102627
Variant Present in the following documents:
View BVdb publication page



Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis.

American Journal Of Respiratory And Critical Care Medicine
Cai, Xiong X; Pacheco-Rodriguez, Gustavo G; Fan, Qing-Yuan QY; Haughey, Mary M; Samsel, Leigh L; El-Chemaly, Souheil S; Wu, Hai-Ping HP; McCoy, J Philip JP; Steagall, Wendy K WK; Lin, Jing-Ping JP; Darling, Thomas N TN; Moss, Joel J
Publication Date: 2010-12-01

Variant appearance in text: rs1748
PubMed Link: 20639436
Variant Present in the following documents:
  • Main text
View BVdb publication page