FBN1 c.3223_3225delinsTGA ;(p.R1075*)

Variant ID: 15-48780422-GCG-TCA

NM_000138.4(FBN1):c.3223_3225delinsTGA;(p.R1075*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.

Frontiers In Genetics
Kim, Su Jin SJ; Lee, Sae-Mi SM; Choi, Jong-Moon JM; Jang, Ja-Hyun JH; Kim, Hyun Gi HG; Kim, Jung-Taek JT; Cho, Jae Ho JH; Sohn, Young Bae YB
Publication Date: 2021

Variant appearance in text: FBN1: Arg1075*
PubMed Link: 34122524
Variant Present in the following documents:
  • Main text
  • fgene-12-670608.pdf
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: FBN1: R1075*
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page