View all contents - The Globin Gene Server - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the TOX database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than TOX, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
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 public entries
entries per page

Path.

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID

Disease

Reference

Template

Technique

Remarks

# Reported

Ethnic origin

Disease Mesh ID

Geographic origin


?/?	-	NG_011993.1:c.*1610G>A	-	-	-	-	TOX_00012	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.1005+4542G>C	-	-	-	-	TOX_00015	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.1005+468C>T	-	-	-	-	TOX_00004	-	Patrinos and Grosveld, 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.1006-3766A>T	-	-	-	-	TOX_00014	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.102+73304T>C	-	-	-	-	TOX_00005	-	Patrinos and Grosveld, 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.103-10760T>A	-	-	-	-	TOX_00020	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.103-13745A>T	-	-	-	-	TOX_00021	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.103-64549A>C	-	-	-	-	TOX_00009	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.103-65076C>T	-	-	-	-	TOX_00010	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.103-66615T>G	-	-	-	-	TOX_00011	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.103-74856G>A	-	-	-	-	TOX_00003	-	Patrinos and Grosveld, 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.1392+2396T>G	-	-	-	-	TOX_00013	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.168+325T>C	-	-	-	-	TOX_00008	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.411+3031C>T	-	-	-	-	TOX_00002	-	Patrinos and Grosveld, 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.411+5750A>C	-	-	-	-	TOX_00007	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.411+9191T>G	-	-	-	-	TOX_00006	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.412-25846C>G	-	-	-	-	TOX_00019	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.412-26539A>G	-	-	-	-	TOX_00001	-	Patrinos and Grosveld, 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.693+2349A>G	-	-	-	-	TOX_00018	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.925-1429A>C	-	-	-	-	TOX_00016	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-
?/?	-	NG_011993.1:c.925-4761G>A	-	-	-	-	TOX_00017	-	Sebastiani et al., 2008 dbSNP	DNA	PCR	-	1	-	-	-

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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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. 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. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Ethnic origin: Ethnic origin of patient Disease Mesh ID: Mesh ID Geographic origin: Geographic origin of patient

The Globin Gene Server

thymocyte selection-associated high mobility group box (TOX)