FBN1 c.6186T>A ;(p.Y2062*)

Variant ID: 15-48730092-A-T

NM_000138.4(FBN1):c.6186T>A;(p.Y2062*)

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:

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: Y2062X
PubMed Link: 12068374
Variant Present in the following documents:
  • Main text
View BVdb publication page