LOVD - Variant listings for TNXB

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Patient data (#0001903)
Patient ID
Disease CAH, EDS
Reference Lao et al., 2019
Template DNA
Technique PCR, SEQ
Remarks 18 patients with congenital adrenal hyperplasia carried the CAH-X CH-2 genotype, a chimeric TNXA/TNXB gene carrying the described variants. Up to 16 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 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
+?/+? Unknown 40 c.12174C>G - Substitution Missense p.Cys4058Trp - - - TNXB_00018