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ADA c.442G>T ;(p.A148S)
Variant ID: 20-43254246-C-A
NM_000022.2(
ADA
):c.442G>T;(p.A148S)
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:
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: A148S; rs1206634144
PubMed Link:
31781678
Variant Present in the following documents:
5902391.f1.pdf
View BVdb publication page