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FBN1 c.179_180delinsAC ;(p.G60D)
Variant ID: 15-48905274-TC-GT
NM_000138.4(
FBN1
):c.179_180delinsAC;(p.G60D)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
First Report of the East-Central South African Genotype of Chikungunya Virus in Rio de Janeiro, Brazil.
Plos Currents
Souza, Thiara Manuele Alves TM; Azeredo, Elzinandes Leal EL; Badolato-Corrêa, Jessica J; Damasco, Paulo Vieira PV; Santos, Carla C; Petitinga-Paiva, Fabienne F; Nunes, Priscila Conrado Guerra PC; Barbosa, Luciana Santos LS; Cipitelli, Márcio Costa MC; Chouin-Carneiro, Thais T; Faria, Nieli Rodrigues Costa NR; Nogueira, Rita Maria Ribeiro RM; de Bruycker-Nogueira, Fernanda F; Dos Santos, Flavia Barreto FB
Publication Date: 2017-02-14
Variant appearance in text: FBN: G60D
PubMed Link:
28286701
Variant Present in the following documents:
Main text
View BVdb publication page
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013
Variant appearance in text: FBN1: G60D
PubMed Link:
23819521
Variant Present in the following documents:
1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page