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FBN1 c.6296G>A ;(p.C2099Y)
Variant ID: 15-48729982-C-T
NM_000138.4(
FBN1
):c.6296G>A;(p.C2099Y)
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 of 248 Chinese aortopathy patients using a panel assay.
Scientific Reports
Yang, Hang H; Luo, Mingyao M; Fu, Yuanyuan Y; Cao, Yandong Y; Yin, Kunlun K; Li, Wenke W; Meng, Chunjie C; Ma, Yanyun Y; Zhang, Jing J; Fan, Yuxin Y; Shu, Chang C; Chang, Qian Q; Zhou, Zhou Z
Publication Date: 2016-09-09
Variant appearance in text: FBN1: 6296G>A; Cys2099Tyr
PubMed Link:
27611364
Variant Present in the following documents:
Main text
srep33002.pdf
View BVdb publication page