LOVD - Variant listings for TNXB

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41 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
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dbSNP Hide dbSNP column Descending
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Type Hide Type column Descending
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Mutation Effect Hide Mutation Effect column Descending
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Protein Hide Protein column Descending
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RNA change Hide RNA change column Descending
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Re-site Hide Re-site column Descending
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DB-ID Hide DB-ID column Descending
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02 c.85C>T dbSNP Substitution Missense p.(Arg29Trp) - - - TNXB_00012
02 c.107_108delinsA - Insertion/Deletion Nonsense p.Ala36Aspfs*68 - - - TNXB_00034
03 c.903del - Deletion Nonsense p.Tyr301* - - - TNXB_00031
03 c.1150dupG - Duplication Nonsense p.Glu384Glyfs*57 - - - TNXB_00024
03 c.2116_2117dup
  (Reported 2 times)
- Duplication Frameshift p.(Glu707*) - - - TNXB_00002
5-6 c.(2358+1_2359-1)_(2779+1_2780-1)del - Deletion Nonsense p.Thr787Glyfs*40 - - - TNXB_00023
05 c.2461C>T - Substitution Nonsense p.Arg821* - - - TNXB_00033
06 c.2531A>G - Substitution Missense p.(Gln844Arg) - - - TNXB_00009
06 c.2539C>T - Substitution Nonsense p.(Arg847*) - - - TNXB_00005
06 c.2590C>T
  (Reported 2 times)
- Substitution Nonsense p.Gln864* - - - TNXB_00030
06 c.2633G>A - Substitution Missense p.(Gly878Asp) - - - TNXB_00037
08 c.3290_3291del
  (Reported 5 times)
- Deletion Frameshift p.(Lys1097Argfs*48) - - - TNXB_00001
08 c.3322G>A dbSNP Substitution Missense p.(Val1108Met) - - - TNXB_00014
09 c.3488G>A - Substitution Missense p.Gly1163Glu - - - TNXB_00036
09 c.3574C>T - Substitution Nonsense p.(Gln1192*) - - - TNXB_00006
09 c.3637G>A - Substitution Missense p.(Val1213Ile) - - - TNXB_00010
10 c.3991G>A - Substitution Missense p.(Gly1331Arg) - - - TNXB_00007
15 c.5362del
  (Reported 2 times)
- Deletion Nonsense p.Thr1788Profs*100 - - - TNXB_00026
17 c.6074A>T
  (Reported 2 times)
- Substitution Missense p.(Asp2025Val) - - - TNXB_00015
17i c.6221-2_6221-1delinsCA - Insertion/Deletion Splice site - - - - TNXB_00039
19 c.6649C>T - Substitution Missense p.(Pro2217Ser) - - - TNXB_00038
21 c.7348G>A - Substitution Missense p.(Gly2450Arg) - - - TNXB_00017
22 c.7560dupC - Duplication Frameshift p.(Glu2521Argfs*16) - - - TNXB_00016
22 c.7774G>A - Substitution Missense p.(Gly2592Ser) - - - TNXB_00011
22 c.7802C>T - Substitution Missense p.Pro2601Leu - - - TNXB_00028
22i c.7826-4C>T - Substitution Splice site - - - - TNXB_00027
22i c.7826-1G>C - Substitution Splice site - - - - TNXB_00027
24 c.8278C>T - Substitution Nonsense p.Gln2760* - - - TNXB_00022
29 c.9764C>T - Substitution Missense p.(Thr3255Ile) - - - TNXB_00008
29i c.10040-4C>T - Substitution Splice site - - - - TNXB_00040
33 c.11155C>T
  (Reported 3 times)
- Substitution Missense p.(Arg3719Trp) - - - TNXB_00004
35i c.11435_11524+30del
  (Reported 8 times)
- Deletion Splice site - - - - TNXB_00025
39 c.11956C>A dbSNP Substitution Missense p.(Leu3986Ile) - - - TNXB_00013
40 c.12174C>G
  (Reported 18 times)
- Substitution Missense p.Cys4058Trp - - - TNXB_00018
41 c.12214C>T
  (Reported 2 times)
- Substitution Missense p.(Arg4072Cys) - - - TNXB_00003
41 c.12218G>A
  (Reported 4 times)
- Substitution Missense p.Arg4073His - - - TNXB_00019
42i c.12464-1G>A - Substitution Splice site - - - - TNXB_00032
43 c.12512G>A - Substitution Missense p.(Arg4171Gln) - - - TNXB_00035
43 c.12514G>A
  (Reported 3 times)
- Substitution Missense p.Asp4172Asn - - - TNXB_00020
43 c.12524G>A
  (Reported 3 times)
- Substitution Missense p.Ser4175Asn - - - TNXB_00021
43 c.12553C>T - Substitution Nonsense p.Arg4185* - - - TNXB_00029
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Legend: [ TNXB 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. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation Effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. TNXB DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.