FBN1 c.2647T>C ;(p.W883R)

Variant ID: 15-48787350-A-G

NM_000138.4(FBN1):c.2647T>C;(p.W883R)

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:

De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Wang, Shuling S; Niu, Ziru Z; Wang, Hui H; Ma, Minyue M; Zhang, Wei W; Fang Wang, Shu S; Wang, Jun J; Yan, Hong H; Liu, Yifan Y; Duan, Na N; Zhang, Xiandong X; Yao, Yuanqing Y
Publication Date: 2017-06-26

Variant appearance in text: FBN: 2647T>C
PubMed Link: 28650953
Variant Present in the following documents:
  • Main text
  • medscimonit-23-3136.pdf
View BVdb publication page