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A1ATVar

Gene
URLhttp://www.goldenhelix.org/server/a1atvar/home.php?select_db=SERPINA1
Last updated11th Mar 2011
LSDB PlatformLOVD
Listing of public variants in this database, where available
ID chr Position
(genomic)
mRNA
position
Variant
(HGVS)
Class* DNA type* Coding?* Times
reported
More
information
No data
* Class, DNA type and coding/non-coding are inferred by the Knowledge Centre from HGVS variant names.
Attribute
yesExplanation of content and aim
yesUseful links
yesLinks to OMIM
noLinks to HGMD
noLinks to other LSDBs
yesDatabase description published
yesCopyright notice displayed
yesDisclaimer available
noLanguage other than English
Attribute
yesReference sequence
yesDetailed information about the disease
yesList of associations and/or patient organisations
yesChromosome location
yesInformation on gene
yesProtein function description
yesHGVS nomenclature used
Attribute
yesSummary table listing all mutations
noDownloadable table of variants
noStatic HTML pages (no search option)
noFlat-file database
yesRelational database
noUse of specific DBMS
yesMutation visualization tool
Attribute
yesData collected by contact with curators
yesData collected via literature
yesOnline variant submission tool
Attribute
yesQuerying tool(s)
noField: Author name
yesField: Codon number
yesField: Ethnic group
yesField: Gene region
yesField: Geographic location
yesField: Phenotype
yesField:Mutation name
yesOther fields for querying
Attribute
yesComplete reference list
yesLinks to references
yesSummary phenotypic description
yesDetailed phenotypic description
noCross-reference with other databases
yesRestriction enzyme change shown
yesEthnic group
yesMutation frequency
yesDetection method
G2P Knowledge Centre is part of GEN2PHEN and funded by the Health Thematic Area of the Cooperation Programme of the European Commission within the VII Framework Programme for Research and Technological Development.

© GEN2PHEN 2011