LOVD - Variant listings for TOX

About this overview [Show]

21 entries
entries per page

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
Ascending

Re-site Hide Re-site column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending
- 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
1 - 21

Save Click here to save this list in a tab-delimited text file.

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.