LOVD - Variant listings for TNXB

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Patient data (#0001902)
Patient ID
Disease CAH, EDS
Reference Lao et al., 2019
Template DNA
Technique PCR, SEQ
Remarks 26 patients with congenital adrenal hyperplasia showed evidence of the CAH-X CH-1 genotype, a chimeric TNXA/TNXB gene featuring the described variant. Up to 24 patients had a complete or partial clinical evaluation for EDS.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 35i
DNA change c.11435_11524+30del   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect Splice site
Protein -
RNA change -
Re-site -
Frequency -
DB-ID TNXB_00025

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 35i c.11435_11524+30del - Deletion Splice site - - - - TNXB_00025