FBN1 c.3145G>A ;(p.G1049S)

Variant ID: 15-48780628-C-T

NM_000138.4(FBN1):c.3145G>A;(p.G1049S)

This variant was identified in 3 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: G1049S; rs778181932
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Workflow for the Implementation of Precision Genomics in Healthcare.

Frontiers In Genetics
Mehandziska, Sanja S; Stajkovska, Aleksandra A; Stavrevska, Margarita M; Jakovleva, Kristina K; Janevska, Marija M; Rosalia, Rodney R; Kungulovski, Ivan I; Mitrev, Zan Z; Kungulovski, Goran G
Publication Date: 2020

Variant appearance in text: FBN1: 3145G>A; Gly1049Ser; rs778181932
PubMed Link: 32695137
Variant Present in the following documents:
  • Main text
  • fgene-11-00619.pdf
View BVdb publication page



Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics
Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G
Publication Date: 2020-02

Variant appearance in text: FBN1: 3145G>A; Gly1049Ser
PubMed Link: 31506931
Variant Present in the following documents:
  • CGE-97-235-s003.xlsx, sheet 3
View BVdb publication page