Mutation submission to BLMbase
for Bloom syndrome
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 
Sex  (XY=male, XX=female) Age at onset  years
Country of origin  Ethnic group 
 Consanguinity No Yes Not known
Symptoms
Relatives
Comments

Action


Submission instructions
BLMbase
Latest version: Wednesday, 19 February, 2014 10:31:7 by Gerard Schaafsma