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TNFRSF1A c.1356T>A ;(p.S452R)
Variant ID: 12-6438490-A-T
NM_001065.3(
TNFRSF1A
):c.1356T>A;(p.S452R)
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:
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Mediators Of Inflammation
Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L
Publication Date: 2019
Variant appearance in text: TNFRSF1A: 1356T>A; rs886049750
PubMed Link:
32082075
Variant Present in the following documents:
Main text
MI2019-3293145.pdf
View BVdb publication page
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Frontiers In Immunology
Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A
Publication Date: 2017
Variant appearance in text: TNFRSF1A: Ser452Arg
PubMed Link:
28421071
Variant Present in the following documents:
Main text
fimmu-08-00344.pdf
View BVdb publication page