DMUDB:Checklist

From Schemalet Wiki

Contents 1 Variant 2 Sample 3 Patient 4 Disease 5 Gene

Variant

Column	Description	Example
id	Identifier
name	Name of variant	c.2540T>C
trivialName	Trivial or alternative name	c.2880T>C
mutation	Mutation	T>C
variantType	Type of variation	substitution
exon	The exon or intron in which the variant occurs	5
protein	protein level variant nomenclature	p.Leu847Pro
location	Location on  reference sequence	2540
aaChange	Amino acid change	substitution
aaChangeType	Type of amino acid change	missense
sequence	Reference sequence	NM_000059.1
referral	Submission information
submitter	Submitter
referrals	Referrals where variant is reported

Sample

Column	Description	Example
sampleId	Identifier
tissueType	Name of tissue	Blood
referral	Referral where sample belongs to

Referral (and submission information)

Column	Description	Example
referralId	Identifier
submissionDate	Date of submission
dateOfReferral	Date of referral
submitter	Submitter
submittingLab	Name of subbitting lab
patient	Information about patient
genesTested	Information about genes tested (id,OMIM) and method of testing
diseases	Information about diagnosed(?) diseases
clinicalKeyWords	Clinical keywords associated to referral
variants	Variants observed from samples
samples	Samples used

Patient

Column	Description	Example
id	Identifier
gender	Gender
dateOfBirth	Date if birth
geographicRegion	Geographic region
ethnicity	Ethnicity

Disease

Column	Description	Example
name	Name of diease
omim	Omim number for the disease
clinicalKeyWords	Clinical key words

Gene

Column	Description	Example
name	Name of gene
omim	omim number for the gene
exonNumbers	The exon numbers in the gene	1,2,3,5,5a etc.
dieases	Diseases associatd to gene
reference sequences	Reference sequence(s) associated with the gene