SECISBP2 c.1253G>T ;(p.R418I)

Variant ID: 9-91954819-G-T

NM_024077.3(SECISBP2):c.1253G>T;(p.R418I)

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:

A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families.

Plos One
Veyssiere, Maëva M; Perea, Javier J; Michou, Laetitia L; Boland, Anne A; Caloustian, Christophe C; Olaso, Robert R; Deleuze, Jean-François JF; Cornelis, François F; Petit-Teixeira, Elisabeth E; Chaudru, Valérie V
Publication Date: 2019

Variant appearance in text: SECISBP2: 1253G>T
PubMed Link: 30845214
Variant Present in the following documents:
  • Main text
  • pone.0213387.pdf
View BVdb publication page