FBN1 c.5498G>T ;(p.C1833F)

Variant ID: 15-48744806-C-A

NM_000138.4(FBN1):c.5498G>T;(p.C1833F)

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:

Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations.

Frontiers In Molecular Biosciences
Chen, Songchang S; Fei, Hongjun H; Zhang, Junyun J; Chen, Yiyao Y; Huang, Hefeng H; Lu, Daru D; Xu, Chenming C
Publication Date: 2021

Variant appearance in text: FBN1: 5498G>T; Cys1833Phe
PubMed Link: 34957211
Variant Present in the following documents:
  • Main text
  • fmolb-08-749842.pdf
View BVdb publication page