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FBN1 c.737-53A>G
Variant ID: 15-48826455-T-C
NM_000138.4(
FBN1
):c.737-53A>G
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Rare Variants and Polymorphisms of FBN1 Gene May Increase the Risk of Non-Syndromic Aortic Dissection.
Frontiers In Genetics
Pan, Meichen M; Li, Lianjie L; Li, Zehao Z; Chen, Shu S; Li, Zongzhe Z; Wang, Yuning Y; He, Henghui H; Lin, Lihua L; Wang, Haihao H; Liu, Qian Q
Publication Date: 2022
Variant appearance in text: rs57512865
PubMed Link:
35154271
Variant Present in the following documents:
Main text
fgene-13-778806.pdf
View BVdb publication page
Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.
Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021
Variant appearance in text: FBN1: 737-53A>G; rs57512865
PubMed Link:
34054912
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: FBN1: 737-53A>G; rs57512865
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
View BVdb publication page
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017
Variant appearance in text: rs57512865
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page
Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.
Molecular Medicine Reports
Ma, Mingjia M; Li, Zongzhe Z; Wang, Dao Wen DW; Wei, Xiang X
Publication Date: 2016-07
Variant appearance in text: rs57512865
PubMed Link:
27175573
Variant Present in the following documents:
Main text
mmr-14-01-0151.pdf
View BVdb publication page