CYBB c.1028C>A ;(p.T343K)

Variant ID: X-37663260-C-A

NM_000397.3(CYBB):c.1028C>A;(p.T343K)

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:

A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases.

Scientific Reports
Lee, Wen-I WI; Chen, Chien-Chang CC; Jaing, Tang-Her TH; Ou, Liang-Shiou LS; Hsueh, Chuen C; Huang, Jing-Long JL
Publication Date: 2017-06-16

Variant appearance in text: CGD: 1028C>A
PubMed Link: 28623282
Variant Present in the following documents:
  • Main text
View BVdb publication page