LOVD - Variant listings for TNXB

About this overview [Show]

Patient data (#0001888)
Patient ID Patient 1
Disease Classical-like EDS
Reference Micale et al., 2019
Template DNA
Technique CNGP, MLPA, PCR, SEQ
Remarks The patient carried a c.8278C>T variant and a deletion including exons 5 and 6, generating a frameshift with the insertion of a premature stop codon. The exact start and end points of the deletion were uncertain.
Ethnic origin Italian

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 24
DNA change c.8278C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Nonsense
Protein p.Gln2760*
RNA change -
Re-site -
Frequency -
DB-ID TNXB_00022

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) 5-6 c.(2358+1_2359-1)_(2779+1_2780-1)del - Deletion Nonsense p.Thr787Glyfs*40 - - - TNXB_00023
+/+ Paternal (confirmed) 24 c.8278C>T - Substitution Nonsense p.Gln2760* - - - TNXB_00022