View unique variants - The Globin Gene Server - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the TOX database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the TOX full legend here.

21 entries
entries per page

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID


-	NG_011993.1:c.*1610G>A	-	-	-	-	TOX_00012
-	NG_011993.1:c.1005+4542G>C	-	-	-	-	TOX_00015
-	NG_011993.1:c.1005+468C>T	-	-	-	-	TOX_00004
-	NG_011993.1:c.1006-3766A>T	-	-	-	-	TOX_00014
-	NG_011993.1:c.102+73304T>C	-	-	-	-	TOX_00005
-	NG_011993.1:c.103-10760T>A	-	-	-	-	TOX_00020
-	NG_011993.1:c.103-13745A>T	-	-	-	-	TOX_00021
-	NG_011993.1:c.103-64549A>C	-	-	-	-	TOX_00009
-	NG_011993.1:c.103-65076C>T	-	-	-	-	TOX_00010
-	NG_011993.1:c.103-66615T>G	-	-	-	-	TOX_00011
-	NG_011993.1:c.103-74856G>A	-	-	-	-	TOX_00003
-	NG_011993.1:c.1392+2396T>G	-	-	-	-	TOX_00013
-	NG_011993.1:c.168+325T>C	-	-	-	-	TOX_00008
-	NG_011993.1:c.411+3031C>T	-	-	-	-	TOX_00002
-	NG_011993.1:c.411+5750A>C	-	-	-	-	TOX_00007
-	NG_011993.1:c.411+9191T>G	-	-	-	-	TOX_00006
-	NG_011993.1:c.412-25846C>G	-	-	-	-	TOX_00019
-	NG_011993.1:c.412-26539A>G	-	-	-	-	TOX_00001
-	NG_011993.1:c.693+2349A>G	-	-	-	-	TOX_00018
-	NG_011993.1:c.925-1429A>C	-	-	-	-	TOX_00016
-	NG_011993.1:c.925-4761G>A	-	-	-	-	TOX_00017

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Legend: [ TOX full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. TOX DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

The Globin Gene Server

thymocyte selection-associated high mobility group box (TOX)