LOVD - Variant listings for TNXB

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Patient data (#0001885)
Patient ID P1
Disease CAH, EDS
Reference Chen et al., 2016
Template DNA
Technique CNGP, PCR, SEQ
Remarks The patient is homozygous for a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency.
Ethnic origin -

Variant data
Allele Paternal (inferred)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 43
DNA change c.12524G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Ser4175Asn
RNA change -
Re-site -
Frequency -
DB-ID TNXB_00021

7 entries 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
+?/- Maternal (inferred) 41 c.12218G>A - Substitution Missense p.Arg4073His - - - TNXB_00019
+?/- Paternal (inferred) 41 c.12218G>A - Substitution Missense p.Arg4073His - - - TNXB_00019
+?/+? Maternal (inferred) 43 c.12514G>A - Substitution Missense p.Asp4172Asn - - - TNXB_00020
+?/+? Paternal (inferred) 43 c.12514G>A - Substitution Missense p.Asp4172Asn - - - TNXB_00020
+?/+? Maternal (inferred) 43 c.12524G>A - Substitution Missense p.Ser4175Asn - - - TNXB_00021
+?/+? Paternal (inferred) 43 c.12524G>A - Substitution Missense p.Ser4175Asn - - - TNXB_00021