SYN3 c.711+1798T>C

Variant ID: 22-33259104-A-G

NM_003490.3(SYN3):c.711+1798T>C

This variant was identified in 5 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: rs137487
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Evaluating the Causal Effects of TIMP-3 on Ischaemic Stroke and Intracerebral Haemorrhage: A Mendelian Randomization Study.

Frontiers In Genetics
Xiao, Linxiao L; Zou, Xuelun X; Liang, Yan Y; Wang, Yuxiang Y; Zeng, Lang L; Wu, Jianhuang J
Publication Date: 2022

Variant appearance in text: rs137487
PubMed Link: 35444693
Variant Present in the following documents:
  • Main text
  • fgene-13-838809.pdf
View BVdb publication page



The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.

Human Mutation
Naessens, Sarah S; De Zaeytijd, Julie J; Syx, Delfien D; Vandenbroucke, Roosmarijn E RE; Smeets, Frédéric F; Van Cauwenbergh, Caroline C; Leroy, Bart P BP; Peelman, Frank F; Coppieters, Frauke F
Publication Date: 2019-05

Variant appearance in text: rs137487
PubMed Link: 30668888
Variant Present in the following documents:
  • HUMU-40-539-s001.pdf
View BVdb publication page



Contribution of TIMP3 polymorphisms to the development of preeclampsia in Han Chinese women.

Journal Of Assisted Reproduction And Genetics
Guo, Changlong C; Cao, Xiaofang X; Wang, Qidi Q; Wang, Guangyu G; An, Lisha L; Du, Meng M; Qiu, Yue Y; Yang, Ying Y; Li, Hui H; Wang, Yuting Y; Wang, Shuo S; Wang, Xingyu X; Ma, Xu X
Publication Date: 2015-10

Variant appearance in text: rs137487
PubMed Link: 26304100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms at TIMP3 are associated with survival of adenocarcinoma of the gastroesophageal junction.

Plos One
Bashash, Morteza M; Shah, Amil A; Hislop, Greg G; Treml, Martin M; Bretherick, Karla K; Janoo-Gilani, Rozmin R; Leach, Stephen S; Le, Nhu N; Bajdik, Chris C; Brooks-Wilson, Angela A
Publication Date: 2013

Variant appearance in text: rs137487
PubMed Link: 23527119
Variant Present in the following documents:
  • Main text
  • pone.0059157.pdf
View BVdb publication page