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ADA c.157G>A ;(p.D53N)
Variant ID: 20-43257749-C-T
NM_000022.2(
ADA
):c.157G>A;(p.D53N)
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: D53N; rs1294381082
PubMed Link:
31781678
Variant Present in the following documents:
5902391.f1.pdf
View BVdb publication page
Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.
Medicine
Chi, Zuo Hua ZH; Wei, Wei W; Bu, Ding Fang DF; Li, Huan Huan HH; Ding, Fei F; Zhu, Ping P
Publication Date: 2018-10
Variant appearance in text: ADA: 157G>A; D53N
PubMed Link:
30290665
Variant Present in the following documents:
medi-97-e12695.pdf
View BVdb publication page