LOVD - Variant listings for TNXB

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Patient data (#0000857)
Patient ID
Disease TNXB deficiency
Reference PĂ©nisson-Besnier et al., 2013
Template DNA
Technique SEQ
Remarks This patient's maternal allele carries a complex rearrangement, which was first described by Burch et al., 1997.
Ethnic origin -

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 41
DNA change c.12214C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.(Arg4072Cys)
RNA change -
Re-site -
Frequency -
DB-ID TNXB_00003

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) 41 c.12214C>T - Substitution Missense p.(Arg4072Cys) - - - TNXB_00003