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ADA c.946G>A ;(p.G316S)
Variant ID: 20-43249688-C-T
NM_000022.2(
ADA
):c.946G>A;(p.G316S)
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:
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05
Variant appearance in text: ADA: 946G>A; G316R
PubMed Link:
32371905
Variant Present in the following documents:
41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
View BVdb publication page
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: G316S; rs1319693020
PubMed Link:
31781678
Variant Present in the following documents:
5902391.f1.pdf
View BVdb publication page