LOVD - Variant listings for TNXB

About this overview [Show]

Patient data (#0001889)
Patient ID Patient 2
Disease Classical-like EDS
Reference Micale et al., 2019
Template DNA
Technique CNGP, MLPA, PCR, SEQ
Remarks The patient carried a c.1150dupG variant and a pseudogene(TNXA)-derived 120bps deletion, likely the result of the formation of a chimeric TNXA/TNXB fusion gene.
Ethnic origin Italian

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 35i
DNA change c.11435_11524+30del   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect Splice site
Protein -
RNA change -
Re-site -
Frequency -
DB-ID TNXB_00025

2 entries in TNXB

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
+/+? Maternal (confirmed) 03 c.1150dupG - Duplication Nonsense p.Glu384Glyfs*57 - - - TNXB_00024
+?/+? Paternal (confirmed) 35i c.11435_11524+30del - Deletion Splice site - - - - TNXB_00025