FBN1 c.*1959G>A

Variant ID: 15-48701228-C-T

NM_000138.4(FBN1):c.*1959G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs12050562
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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: rs12050562
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



A single-nucleotide polymorphism in the 3'-UTR region of the adipocyte fatty acid binding protein 4 gene is associated with prognosis of triple-negative breast cancer.

Oncotarget
Wang, Wenmiao W; Yuan, Peng P; Yu, Dianke D; Du, Feng F; Zhu, Anjie A; Li, Qing Q; Zhang, Pin P; Lin, Dongxin D; Xu, Binghe B
Publication Date: 2016-04-05

Variant appearance in text: rs12050562
PubMed Link: 26959740
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variation in extracellular matrix genes is associated with weight regain after weight loss in a sex-specific manner.

Genes & Nutrition
Roumans, Nadia J T NJ; Vink, Roel G RG; Gielen, Marij M; Zeegers, Maurice P MP; Holst, Claus C; Wang, Ping P; Astrup, Arne A; Saris, Wim H WH; Valsesia, Armand A; Hager, Jörg J; van Baak, Marleen A MA; Mariman, Edwin C M EC
Publication Date: 2015-11

Variant appearance in text: rs12050562
PubMed Link: 26584808
Variant Present in the following documents:
  • Main text
  • 12263_2015_Article_506.pdf
View BVdb publication page