Bibliome.ai browser hg19
Search
About
Stats
FAQ
FBN1 c.5452T>A ;(p.C1818S)
Variant ID: 15-48744852-A-T
NM_000138.4(
FBN1
):c.5452T>A;(p.C1818S)
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:
Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.
Molecular Genetics & Genomic Medicine
Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J
Publication Date: 2021-10
Variant appearance in text: FBN1: 5452T>A; Cys1818Ser
PubMed Link:
34498425
Variant Present in the following documents:
Main text
MGG3-9-e1800.pdf
View BVdb publication page
Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.
Molecular Genetics & Genomic Medicine
Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J
Publication Date: 2021-10
Variant appearance in text: FBN1: 5452T>A; Cys1818Ser
PubMed Link:
34498425
Variant Present in the following documents:
Main text
MGG3-9-e1800.pdf
View BVdb publication page