LOVD - Variant listings for TNXB

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Patient data (#0001878)
Patient ID Family 1: II-2
Disease CAH
Reference Morissette et al., 2015
Template DNA
Technique CNGP, PCR, SEQ
Remarks The patient and his father carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They showed some characteristics of hypermobile EDS.
Ethnic origin -

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
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

1 entry 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
+?/+? Paternal (confirmed) 40 c.12174C>G - Substitution Missense p.Cys4058Trp - - - TNXB_00018