FBN1 c.3294C>T ;(p.D1098=)

Variant ID: 15-48780353-G-A

NM_000138.4(FBN1):c.3294C>T;(p.D1098=)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Integrated Analysis of the Pancreas and Islets Reveals Unexpected Findings in Human Male With Type 1 Diabetes.

Journal Of The Endocrine Society
Haliyur, Rachana R; Walker, John T JT; Sanyoura, May M; Reihsmann, Conrad V CV; Shrestha, Shristi S; Aramandla, Radhika R; Poffenberger, Greg G; Ramirez, Andrea H AH; Redick, Sambra D SD; Babon, Jenny Aurielle B JAB; Prasad, Nripesh N; Hegele, Robert A RA; Kent, Sally C SC; Harlan, David M DM; Bottino, Rita R; Philipson, Louis H LH; Brissova, Marcela M; Powers, Alvin C AC
Publication Date: 2021-12-01

Variant appearance in text: FBN1: 3294C>T; Asp1098Asp; rs140587
PubMed Link: 34870058
Variant Present in the following documents:
  • Main text
  • bvab162.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: FBN1: 3294C>T; Asp1098Asp; rs140587
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



α Cell Function and Gene Expression Are Compromised in Type 1 Diabetes.

Cell Reports
Brissova, Marcela M; Haliyur, Rachana R; Saunders, Diane D; Shrestha, Shristi S; Dai, Chunhua C; Blodgett, David M DM; Bottino, Rita R; Campbell-Thompson, Martha M; Aramandla, Radhika R; Poffenberger, Gregory G; Lindner, Jill J; Pan, Fong Cheng FC; von Herrath, Matthias G MG; Greiner, Dale L DL; Shultz, Leonard D LD; Sanyoura, May M; Philipson, Louis H LH; Atkinson, Mark M; Harlan, David M DM; Levy, Shawn E SE; Prasad, Nripesh N; Stein, Roland R; Powers, Alvin C AC
Publication Date: 2018-03-06

Variant appearance in text: FBN1: 3294C>T; Asp1098Asp; rs140587
PubMed Link: 29514095
Variant Present in the following documents:
  • NIHMS963683-supplement-supplement_1.pdf
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: FBN1: 3294C>T; Asp1098=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015

Variant appearance in text: FBN1: 3294C>T; Asp1098Asp; rs140587
PubMed Link: 26332594
Variant Present in the following documents:
  • pone.0135193.s002.xls, sheet 1
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: rs140587
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page