LOVD - Variant listings for TNXB

About this overview [Show]

Patient data (#0001899)
Patient ID Family X
Disease TNXB EDS
Reference Demirdas et al., 2016
Template DNA
Technique CNGP, SEQ
Remarks This patient was previously described in Hendriks et al., 2012. The patient carries a TNXB/TNXA fusion gene with a 30kb deletion encompassing CYP21A2 on the allele from Parent #1.
Ethnic origin -

Variant data
Allele Parent #1
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 40
DNA change c.12174C>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Cys4058Trp
RNA change -
Re-site -
Frequency -
DB-ID TNXB_00018

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
-/- Parent #2 40 c.12174C>G - Substitution Missense p.Cys4058Trp - - - TNXB_00018
-/- Parent #1 40 c.12174C>G - Substitution Missense p.Cys4058Trp - - - TNXB_00018