FBN1 c.3208+2T>A

Variant ID: 15-48780563-A-T

NM_000138.4(FBN1):c.3208+2T>A

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:

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Arnaud, Pauline P; Morel, Hélène H; Milleron, Olivier O; Gouya, Laurent L; Francannet, Christine C; Da Costa, Antoine A; Le Goff, Carine C; Jondeau, Guillaume G; Boileau, Catherine C; Hanna, Nadine N
Publication Date: 2021-05

Variant appearance in text: FBN1: 3208+2T>A
PubMed Link: 33495528
Variant Present in the following documents:
  • Main text
  • 41436_2020_Article_1078.pdf
View BVdb publication page