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FBN1 c.284C>G ;(p.S95W)
Variant ID: 15-48902987-G-C
NM_000138.4(
FBN1
):c.284C>G;(p.S95W)
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:
Identification of novel FBN1 variations implicated in congenital scoliosis.
Journal Of Human Genetics
Lin, Mao M; Zhao, Sen S; Liu, Gang G; Huang, Yingzhao Y; Yu, Chenxi C; Zhao, Yanxue Y; Wang, Lianlei L; Zhang, Yuanqiang Y; Yan, Zihui Z; Wang, Shengru S; Liu, Sen S; Liu, Jiaqi J; Ye, Yongyu Y; Chen, Yaping Y; Yang, Xu X; Tong, Bingdu B; Wang, Zheng Z; Yang, Xinzhuang X; Niu, Yuchen Y; Li, Xiaoxin X; Wang, Yipeng Y; Su, Jianzhong J; Yuan, Jian J; Zhao, Hengqiang H; Zhang, Shuyang S; Qiu, Guixing G; , ; Ikegawa, Shiro S; Zhang, Jianguo J; Wu, Zhihong Z; Wu, Nan N
Publication Date: 2020-03
Variant appearance in text: FBN1: 284C>G; Ser95Trp
PubMed Link:
31827250
Variant Present in the following documents:
Main text
10038_2019_Article_698.pdf
View BVdb publication page