FBN1 c.2113G>A ;(p.A705T)

Variant ID: 15-48795984-C-T

NM_000138.4(FBN1):c.2113G>A;(p.A705T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.

Orphanet Journal Of Rare Diseases
Stengl, Roland R; Bors, András A; Ágg, Bence B; Pólos, Miklós M; Matyas, Gabor G; Molnár, Mária Judit MJ; Fekete, Bálint B; Csabán, Dóra D; Andrikovics, Hajnalka H; Merkely, Béla B; Radovits, Tamás T; Szabolcs, Zoltán Z; Benke, Kálmán K
Publication Date: 2020-10-15

Variant appearance in text: FBN1: 2113G>A; Ala705Thr
PubMed Link: 33059708
Variant Present in the following documents:
  • 13023_2020_1569_MOESM1_ESM.pdf
View BVdb publication page



A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.

Molecular Vision
Dong, Jiamei J; Bu, Juan J; Du, Wei W; Li, Yuan Y; Jia, Yanlei Y; Li, Jianchang J; Meng, Xiaoli X; Yuan, Minghui M; Peng, Xiaojuan X; Zhou, Aimin A; Wang, Lejin L
Publication Date: 2012

Variant appearance in text: FBN1: A705T
PubMed Link: 22262941
Variant Present in the following documents:
  • Main text
  • mv-v18-81.pdf
View BVdb publication page