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FBN1 c.164G>A ;(p.G55E)
Variant ID: 15-48936803-C-T
NM_000138.4(
FBN1
):c.164G>A;(p.G55E)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Journal Of The American Heart Association
Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H
Publication Date: 2023-04-12
Variant appearance in text: FBN1: Gly55Glu
PubMed Link:
37042257
Variant Present in the following documents:
JAH3-12-e028625.pdf
JAH3-12-e028625-s001.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: 164G>A; Gly55Glu
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: 164G>A; Gly55Glu
PubMed Link:
34498425
Variant Present in the following documents:
Main text
MGG3-9-e1800.pdf
View BVdb publication page