FBN1 c.5511del ;(p.G1838Afs*55)

Variant ID: 15-48744792-CG-C

NM_000138.4(FBN1):c.5511del;(p.G1838Afs*55)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.

Genome Medicine
Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT
Publication Date: 2022-06-03

Variant appearance in text: FBN1: 5511del; Gly1838AlafsX55
PubMed Link: 35655252
Variant Present in the following documents:
  • 13073_2022_1056_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page