LOVD - Variant listings for TNXB

About this overview [Show]

Patient data (#0001890)
Patient ID
Disease Classical-like EDS
Reference Rymen et al., 2019
Template DNA
Technique PCR, SEQ
Remarks -
Ethnic origin Swiss

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 15
DNA change c.5362del   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect Nonsense
Protein p.Thr1788Profs*100
RNA change -
Re-site -
Frequency -
DB-ID TNXB_00026

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 (inferred) 15 c.5362del - Deletion Nonsense p.Thr1788Profs*100 - - - TNXB_00026
+/+? Paternal (inferred) 15 c.5362del - Deletion Nonsense p.Thr1788Profs*100 - - - TNXB_00026