ADA c.1061C>T ;(p.P354L)

Variant ID: 20-43248957-G-A

NM_000022.2(ADA):c.1061C>T;(p.P354L)

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:

2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Journal Of Clinical Immunology
Publication Date: 2018-04

Variant appearance in text: ADA: 1061C>T
PubMed Link: 29682684
Variant Present in the following documents:
  • Main text
  • 10875_2018_Article_485.pdf
View BVdb publication page