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FBN1 c.5913T>A ;(p.C1971*)
Variant ID: 15-48737577-A-T
NM_000138.4(
FBN1
):c.5913T>A;(p.C1971*)
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: 5913T>A; Cys1971X
PubMed Link:
26272055
Variant Present in the following documents:
Main text
srep13115.pdf
View BVdb publication page