FBN1 c.733_734delinsTC ;(p.Q245S)

Variant ID: 15-48829810-TG-GA

NM_000138.4(FBN1):c.733_734delinsTC;(p.Q245S)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan Syndrome.

Metabolites
Bartenbach, Lisa L; Karall, Thomas T; Koch, Jakob J; Keller, Markus Andreas MA; Oberacher, Herbert H; Scholl-Bürgi, Sabine S; Karall, Daniela D; Oemer, Gregor G; Baumgartner, Daniela D; Meinel, Katharina K; Aly, Safwat S; Odri-Komazec, Irena I; Geiger, Ralf R; Michel, Miriam M
Publication Date: 2021-11-27

Variant appearance in text: FBN1: Q245S
PubMed Link: 34940564
Variant Present in the following documents:
  • Main text
  • metabolites-11-00805.pdf
View BVdb publication page


Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan Syndrome.

Metabolites
Bartenbach, Lisa L; Karall, Thomas T; Koch, Jakob J; Keller, Markus Andreas MA; Oberacher, Herbert H; Scholl-Bürgi, Sabine S; Karall, Daniela D; Oemer, Gregor G; Baumgartner, Daniela D; Meinel, Katharina K; Aly, Safwat S; Odri-Komazec, Irena I; Geiger, Ralf R; Michel, Miriam M
Publication Date: 2021-11-27

Variant appearance in text: FBN1: Q245S
PubMed Link: 34940564
Variant Present in the following documents:
  • Main text
  • metabolites-11-00805.pdf
View BVdb publication page