LOVD - Variant listings for TNXB

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Patient data (#0001901)
Patient ID
Disease TNXB deficiency
Reference Penisson-Besnier
Template DNA
Technique SEQ
Remarks The patient carried a TNXA/TNXB fusion gene with a 30kb deletion on one allele, and the c.12214C>T variant on the other allele. His father and brother were asymptomatic and heterozygous for only the substitution variant. Authors predict that the variant is only pathogenic when compound heterozygous with another null allele.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity No known pathogenicity
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
+?/- Unknown 41 c.12214C>T - Substitution Missense p.(Arg4072Cys) - - - TNXB_00003