FBN1 c.125C>G ;(p.A42G)

Variant ID: 15-48936842-G-C

NM_000138.4(FBN1):c.125C>G;(p.A42G)

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:

tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine.

Bioinformatics (Oxford, England)
Wei, Chih-Hsuan CH; Phan, Lon L; Feltz, Juliana J; Maiti, Rama R; Hefferon, Tim T; Lu, Zhiyong Z
Publication Date: 2018-01-01

Variant appearance in text: FBN1: A42G
PubMed Link: 28968638
Variant Present in the following documents:
  • Main text
View BVdb publication page