FBN1 c.993T>C ;(p.V331=)

Variant ID: 15-48813010-A-G

NM_000138.4(FBN1):c.993T>C;(p.V331=)

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:

Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms-A Case-Based Review.

Diagnostics (Basel, Switzerland)
Encica, Svetlana S; Molnar, Adrian A; Manole, Simona S; Filan, Teodora T; Oprița, Simona S; Bursașiu, Eugen E; Vulturar, Romana R; Damian, Laura L
Publication Date: 2021-03-05

Variant appearance in text: FBN1: Val331Val
PubMed Link: 33807627
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00446.pdf
View BVdb publication page