FBN1 c.6379G>T ;(p.D2127Y)

Variant ID: 15-48729519-C-A

NM_000138.4(FBN1):c.6379G>T;(p.D2127Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Journal Of The American Heart Association
Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H
Publication Date: 2023-04-12

Variant appearance in text: FBN1: Asp2127Tyr
PubMed Link: 37042257
Variant Present in the following documents:
  • JAH3-12-e028625-s001.pdf
  • JAH3-12-e028625.pdf
View BVdb publication page



Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.

The British Journal Of Ophthalmology
Chen, Zexu Z; Chen, Tianhui T; Zhang, Min M; Chen, Jiahui J; Deng, Michael M; Zheng, Jialei J; Lan, Li-Na LN; Jiang, Yongxiang Y
Publication Date: 2022-12

Variant appearance in text: FBN1: 6379G>T; Asp2127Tyr
PubMed Link: 34281902
Variant Present in the following documents:
  • bjophthalmol-2021-319084supp003.pdf
View BVdb publication page



The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.

Human Mutation
Hilhorst-Hofstee, Yvonne Y; Rijlaarsdam, Marry E B ME; Scholte, Arthur J H A AJ; Swart-van den Berg, Marietta M; Versteegh, Michel I M MI; van der Schoot-van Velzen, Iris I; Schäbitz, Hans-Joachim HJ; Bijlsma, Emilia K EK; Baars, Marieke J MJ; Kerstjens-Frederikse, Wilhelmina S WS; Giltay, Jacques C JC; Hamel, Ben C BC; Breuning, Martijn H MH; Pals, Gerard G
Publication Date: 2010-12

Variant appearance in text: FBN1: 6379G>T; Asp2127Tyr
PubMed Link: 20886638
Variant Present in the following documents:
  • Main text
  • humu0031-E1915.pdf
View BVdb publication page