FBN1 c.978_979del ;(p.R327Mfs*20)

Variant ID: 15-48818336-CTG-C

NM_000138.4(FBN1):c.978_979del;(p.R327Mfs*20)

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:

Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.

Scientific Reports
Guo, Jun J; Cai, Lun L; Jia, Lixin L; Li, Xiaoyan X; Xi, Xin X; Zheng, Shuai S; Liu, Xuxia X; Piao, Chunmei C; Liu, Tingting T; Sun, Zhongsheng Z; Cai, Tao T; Du, Jie J
Publication Date: 2015-08-14

Variant appearance in text: FBN1: 978_979delCA
PubMed Link: 26272055
Variant Present in the following documents:
  • srep13115-s1.pdf
View BVdb publication page