FBN1 c.3279del ;(p.F1093Lfs*14)

Variant ID: 15-48780367-CA-C

NM_000138.4(FBN1):c.3279del;(p.F1093Lfs*14)

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:

Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype-phenotype correlations in the Chinese population.

Bioscience Reports
Wu, Yuduo Y; Sun, Hairui H; Wang, Jianbin J; Wang, Xin X; Gong, Ming M; Han, Lu L; He, Yihua Y; Zhang, Hongjia H
Publication Date: 2020-12-23

Variant appearance in text: FBN1: 3279delT; F1093fs
PubMed Link: 33200202
Variant Present in the following documents:
  • Main text
  • bsr-40-bsr20203356.pdf
View BVdb publication page