Mutation submission to NCF2base
for Autosomal recessive chronic granulomatous disease
Please, note that it is the responsibility of the submitters to ascertain that they have
the right to submit the data and they have the necessary permissions, including the
consent from the patient or family.
The submitted data will be made publicly available on the database website.
If you want to submit confidential cases, please, contact the database curator.

Submitter

Name: (Obligatory)
Address:
Telephone: Fax:
E-mail: (Obligatory)
References
PubMed ID



Mutation Numbering by reference sequence entry

Mutation
description
Heterozygous Homozygous
Allele 1   Allele 2
Type    Type 
Start number  Required   Start number  Required
Reference seq    Reference seq 
Variant seq    Variant seq 

Patient

Background Original code  Family history 
Sex  (XY=male, XX=female) Age at diagnosis  years
Country of origin  Ethnic group 
Diagnosis
Symptoms
Tests with
patient's cells
NBT test DHR Superoxide Western blot
Others specify
Treatment (please, check all that apply) Prophylaxis Antibiotics Gamma-interferon
Drainage Removal PMN or BM transfusion
Others specify
Molecular
consequences
mRNA level  Protein level 
Activity level  Protein struct 
Relatives
Comments

Action


Submission instructions
NCF2base
Latest version: Thursday, 24 July, 2014 15:38:32 by Gerard Schaafsma