FBN1 c.1960+76G>A

Variant ID: 15-48797146-C-T

NM_000138.4(FBN1):c.1960+76G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs17361868
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: FBN1: 1960+76G>A; rs17361868
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population.

Molecular Vision
Yip, Shea Ping SP; Leung, Kim Hung KH; Fung, Wai Yan WY; Ng, Po Wah PW; Sham, Pak Chung PC; Yap, Maurice K H MK
Publication Date: 2011-03-26

Variant appearance in text: rs17361868
PubMed Link: 21527992
Variant Present in the following documents:
  • Main text
  • mv-v17-810.pdf
View BVdb publication page



Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

American Journal Of Human Genetics
Morales, Jose J; Al-Sharif, Latifa L; Khalil, Dania S DS; Shinwari, Jameela M A JM; Bavi, Prashant P; Al-Mahrouqi, Rahima A RA; Al-Rajhi, Ali A; Alkuraya, Fowzan S FS; Meyer, Brian F BF; Al Tassan, Nada N
Publication Date: 2009-11

Variant appearance in text: FBN1: 1960+76G>A; rs17361868
PubMed Link: 19836009
Variant Present in the following documents:
  • Main text
View BVdb publication page