FBN1 c.745G>T ;(p.E249*)

Variant ID: 15-48826394-C-A

NM_000138.4(FBN1):c.745G>T;(p.E249*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

American Journal Of Human Genetics
Schrijver, Iris I; Liu, Wanguo W; Odom, Raanan R; Brenn, Thomas T; Oefner, Peter P; Furthmayr, Heinz H; Francke, Uta U
Publication Date: 2002-08

Variant appearance in text: FBN1: E249X
PubMed Link: 12068374
Variant Present in the following documents:
  • Main text
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