FBN1 c.1868G>C ;(p.C623S)

Variant ID: 15-48797314-C-G

NM_000138.4(FBN1):c.1868G>C;(p.C623S)

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: FBN1: 1868G>C
PubMed Link: 28650953
Variant Present in the following documents:
  • Main text
  • medscimonit-23-3136.pdf
View BVdb publication page