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ADA c.374C>T ;(p.T125I)
Variant ID: 20-43254314-G-A
NM_000022.2(
ADA
):c.374C>T;(p.T125I)
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:
Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.
Journal Of Immunology Research
Essadssi, Soukaina S; Krami, Al Mehdi AM; Elkhattabi, Lamiae L; Elkarhat, Zouhair Z; Amalou, Ghita G; Abdelghaffar, Houria H; Rouba, Hassan H; Barakat, Abdelhamid A
Publication Date: 2019
Variant appearance in text: ADA: T125I; rs536103858
PubMed Link:
31781678
Variant Present in the following documents:
5902391.f1.pdf
View BVdb publication page
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: ADA: 374C>T
PubMed Link:
31589614
Variant Present in the following documents:
pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page