FBN1 c.8069T>G ;(p.M2690R)

Variant ID: 15-48704923-A-C

NM_000138.4(FBN1):c.8069T>G;(p.M2690R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: FBN1: M2690R; rs747476726
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Neonatal Arterial Tortuosity and Adult Aortic Aneurysm-Is There a Missing Link?-A Case Report.

Frontiers In Pediatrics
Bharadwaj, Srabani S; Chan, Charmaine C; Choo Tze Liang, Jonathan J; Sanamandra, Sarat Kumar SK; Fortier, Marielle Valerie MV; Koh, Ai Ling AL; Sundararaghavan, Sreekanthan S
Publication Date: 2021

Variant appearance in text: FBN1: 8069T>G; Met2690Arg
PubMed Link: 35372177
Variant Present in the following documents:
  • Main text
  • fped-09-814773.pdf
View BVdb publication page



A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.

Frontiers In Cell And Developmental Biology
Yang, Wenke W; Li, Yi Y; Bai, Jun J; You, Tao T; Yi, Kang K; Xie, Dingxiong D; Zhang, Xiaowei X; Xie, Xiaodong X
Publication Date: 2021

Variant appearance in text: FBN1: M2690R
PubMed Link: 34249922
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.

Scientific Reports
Fang, Miaoxian M; Yu, Changjiang C; Chen, Siyao S; Xiong, Weiping W; Li, Xin X; Zeng, Rong R; Zhuang, Jian J; Fan, Ruixin R
Publication Date: 2017-08-30

Variant appearance in text: FBN1: 8069T>G; Met2690Arg
PubMed Link: 28855619
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_9785.pdf
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: FBN1: M2690R; rs747476726
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
View BVdb publication page