FMR1 c.*1174C>T

Variant ID: X-147031538-C-T

NM_002024.5(FMR1):c.*1174C>T

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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: rs25704
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Association of miRNA biosynthesis genes DROSHA and DGCR8 polymorphisms with cancer susceptibility: a systematic review and meta-analysis.

Bioscience Reports
Wen, Jing J; Lv, Zhi Z; Ding, Hanxi H; Fang, Xinxin X; Sun, Mingjun M
Publication Date: 2018-06-29

Variant appearance in text: rs25704
PubMed Link: 29654164
Variant Present in the following documents:
  • Main text
  • bsr-38-bsr20180072.pdf
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs25704
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study.

Bmc Medical Genomics
Mullany, Lila E LE; Herrick, Jennifer S JS; Wolff, Roger K RK; Buas, Matthew F MF; Slattery, Martha L ML
Publication Date: 2016-04-23

Variant appearance in text: rs25704
PubMed Link: 27107574
Variant Present in the following documents:
  • Main text
  • 12920_2016_Article_181.pdf
View BVdb publication page



Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics
Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP
Publication Date: 2015-06-20

Variant appearance in text: rs25704
PubMed Link: 26092435
Variant Present in the following documents:
  • 40246_2015_34_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Common genetic polymorphisms of microRNA biogenesis pathway genes and breast cancer survival.

Bmc Cancer
Sung, Hyuna H; Jeon, Sujee S; Lee, Kyoung-Mu KM; Han, Sohee S; Song, Minkyo M; Choi, Ji-Yeob JY; Park, Sue K SK; Yoo, Keun-Young KY; Noh, Dong-Young DY; Ahn, Sei-Hyun SH; Kang, Daehee D
Publication Date: 2012-05-28

Variant appearance in text: rs25704
PubMed Link: 22639842
Variant Present in the following documents:
  • Main text
  • 1471-2407-12-195.pdf
View BVdb publication page



LIN28B polymorphisms influence susceptibility to epithelial ovarian cancer.

Cancer Research
Permuth-Wey, Jennifer J; Kim, Donghwa D; Tsai, Ya-Yu YY; Lin, Hui-Yi HY; Chen, Y Ann YA; Barnholtz-Sloan, Jill J; Birrer, Michael J MJ; Bloom, Gregory G; Chanock, Stephen J SJ; Chen, Zhihua Z; Cramer, Daniel W DW; Cunningham, Julie M JM; Dagne, Getachew G; Ebbert-Syfrett, Judith J; Fenstermacher, David D; Fridley, Brooke L BL; Garcia-Closas, Montserrat M; Gayther, Simon A SA; Ge, William W; Gentry-Maharaj, Aleksandra A; Gonzalez-Bosquet, Jesus J; Goode, Ellen L EL; Iversen, Edwin E; Jim, Heather H; Kong, William W; McLaughlin, John J; Menon, Usha U; Monteiro, Alvaro N A AN; Narod, Steven A SA; Pharoah, Paul D P PD; Phelan, Catherine M CM; Qu, Xiaotao X; Ramus, Susan J SJ; Risch, Harvey H; Schildkraut, Joellen M JM; Song, Honglin H; Stockwell, Heather H; Sutphen, Rebecca R; Terry, Kathryn L KL; Tyrer, Jonathan J; Vierkant, Robert A RA; Wentzensen, Nicolas N; Lancaster, Johnathan M JM; Cheng, Jin Q JQ; Sellers, Thomas A TA; ,
Publication Date: 2011-06-01

Variant appearance in text: rs25704
PubMed Link: 21482675
Variant Present in the following documents:
  • Main text
View BVdb publication page



Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

Plos One
Collins, Stephen C SC; Coffee, Brad B; Benke, Paul J PJ; Berry-Kravis, Elizabeth E; Gilbert, Fred F; Oostra, Ben B; Halley, Dicky D; Zwick, Michael E ME; Cutler, David J DJ; Warren, Stephen T ST
Publication Date: 2010-03-05

Variant appearance in text: rs25704
PubMed Link: 20221430
Variant Present in the following documents:
  • Main text
View BVdb publication page



Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes.

Human Mutation
Ennis, S S; Murray, A A; Brightwell, G G; Morton, N E NE; Jacobs, P A PA
Publication Date: 2007-12

Variant appearance in text: rs25704
PubMed Link: 17674408
Variant Present in the following documents:
  • Main text
  • humu0028-1216.pdf
View BVdb publication page