LOVD - Variant listings for TNXB

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+?/+? 02 c.85C>T dbSNP Substitution Missense p.(Arg29Trp) - - - TNXB_00012 EDS Zweers et al., 2005 DNA PCR, SEQ The patient had normal TNX serum levels. -
+/+ 03 c.2116_2117dup
    + c.2116_2117dup
- Duplication Frameshift p.(Glu707*) - - - TNXB_00002 Patient 4 EDS AR Schalkwijk et al., 2001 DNA PCR, SEQ This patient's parents were unavailable for study. The variant was incorrectly described as an insertion, rather than a duplication. awjm1
?/-? 06 c.2531A>G - Substitution Missense p.(Gln844Arg) - - - TNXB_00009 j_bertz EDS III United States:Omaha DNA CNGP The testing laboratory (University of Nebraska Medical Center) describes this variant as being of "Uncertain Clinical Significance". The status of patient's disease classification has been changed from EDS III to "undiagnosed" on the basis of further clinical tests - 3 May 2017. Caucasian
+/+ 06 c.2539C>T
    + c.3574C>T
- Substitution Nonsense p.(Arg847*) - - - TNXB_00005 TNXB EDS Sakiyama et al., 2015 DNA CNGP, PCR, SEQ The patient had recurrent gastrointenstinal perforation. Japanese
+/+ 08 c.3290_3291del
    + c.3290_3291del
- Deletion Frameshift p.(Lys1097Argfs*48) - - - TNXB_00001 Patient 1 EDS AR Schalkwijk et al., 2001 DNA PCR, SEQ This patient's mother was deceased, but the patient's sister was heterozygous for the variant, with the maternal allele carrying the deletion. This patient was subsequently described by Voermans et al., 2007 and Voermans et al., 2007. -
+/+ 08 c.3290_3291del
    + c.3290_3291del
- Deletion Frameshift p.(Lys1097Argfs*48) - - - TNXB_00001 Patient 5 EDS AR Schalkwijk et al., 2001 DNA PCR, SEQ This patient's parents were unavailable for study. -
+?/+? 08 c.3322G>A dbSNP Substitution Missense p.(Val1108Met) - - - TNXB_00014 EDS III Zweers et al., 2005 DNA PCR, SEQ The patient had normal TNX serum levels. The variant is incorrectly described by the authors as "3583AG". -
+/+ 09 c.3574C>T
    + c.2539C>T
- Substitution Nonsense p.(Gln1192*) - - - TNXB_00006 TNXB EDS Sakiyama et al., 2015 DNA CNGP, PCR, SEQ The patient had recurrent gastrointenstinal perforation. Japanese
+/+? 09 c.3637G>A
    + c.7774G>A
- Substitution Missense p.(Val1213Ile) - - - TNXB_00010 OI/EDS Mackenroth et al., 2016 DNA SEQ, WES The patient also harbours the COL1A1 variant c.4006-1G>A. German
+/+ 10 c.3991G>A - Substitution Missense p.(Gly1331Arg) - - - TNXB_00007 Family 2 VUR Gbadegesin et al., 2013 DNA PCR, SEQ - Caucasian
+?/+? 17 c.6074A>T - Substitution Missense p.(Asp2025Val) - - - TNXB_00015 43 EDS III Lee et al., 2014 DNA PCR, SEQ, WGS - -
+/+? 17 c.6074A>T - Substitution Missense p.(Asp2025Val) - - - TNXB_00015 TNXB EDS Kaufman and Butler, 2016 DNA CNGP - Ashkenazi Jewish
?/? 21 c.7348G>A
    + c.7560dupC
- Substitution Missense p.(Gly2450Arg) - - - TNXB_00017 EDS III Canada:Bowmanville DNA PCR, SEQ The patient's older affected sister also harbours the duplication sequence variant. rwmd
+/+ 22 c.7560dupC
    + c.7348G>A
- Duplication Frameshift p.(Glu2521Argfs*16) - - - TNXB_00016 EDS III Canada:Bowmanville DNA PCR, SEQ The patient's older affected sister also harbours the duplication sequence variant. rwmd
+/+? 22 c.7774G>A
    + c.3637G>A
- Substitution Missense p.(Gly2592Ser) - - - TNXB_00011 OI/EDS Mackenroth et al., 2016 DNA SEQ, WES The patient also harbours the COL1A1 variant c.4006-1G>A. German
+/+ 29 c.9764C>T - Substitution Missense p.(Thr3255Ile) - - - TNXB_00008 Family 6606 VUR Gbadegesin et al., 2013 DNA PCR, SEQ, WES The variant was described in the published account as ENST00000375244:c.9770C>T Caucasian
?/+? 33 c.11155C>T - Substitution Missense p.(Arg3719Trp) - - - TNXB_00004 Michelle Dolan EDS III United States:Melville DNA SEQ Performed by Prevention Genetics. The proband's sister and daughter also harbour the same variant but are not definitively diagnosed as having EDS III. English, Dutch
+/+ 33 c.11155C>T - Substitution Missense p.(Arg3719Trp) - - - TNXB_00004 EDS III Germany:Neumarkt DNA PCR, SEQ - German
+?/-? 39 c.11956C>A dbSNP Substitution Missense p.(Leu3986Ile) - - - TNXB_00013 EDS III Zweers et al., 2005 DNA PCR, SEQ The patient had normal TNX serum levels. The variant is incorrectly described by the authors as "12097CA". This is a common sequence variant which is unlikely to be disease-causing. -
+/+ 41 c.12214C>T - Substitution Missense p.(Arg4072Cys) - - - TNXB_00003 TNXB deficiency PĂ©nisson-Besnier et al., 2013 DNA SEQ This patient's maternal allele carries a complex rearrangement, which was first described by Burch et al., 1997. -
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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.
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. 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. Patient ID: Internal reference to the patient. 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. Ethnic origin: Ethnic origin of patient