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FBN1 c.5498G>C ;(p.C1833S)
Variant ID: 15-48744806-C-G
NM_000138.4(
FBN1
):c.5498G>C;(p.C1833S)
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: Cys1833Ser
PubMed Link:
34957211
Variant Present in the following documents:
Main text
fmolb-08-749842.pdf
View BVdb publication page