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.




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