LOVD - Variant listings for TNXB

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Patient data (#0001900)
Patient ID Family XI
Disease TNXB EDS
Reference Demirdas et al., 2016
Template DNA
Technique CNGP, MLPA, SEQ
Remarks -
Ethnic origin -

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 02
DNA change c.107_108delinsA   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Insertion/Deletion
Mutation Effect Nonsense
Protein p.Ala36Aspfs*68
RNA change -
Re-site -
Frequency -
DB-ID TNXB_00034

2 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
+/+ Parent #1 02 c.107_108delinsA - Insertion/Deletion Nonsense p.Ala36Aspfs*68 - - - TNXB_00034
-/- Parent #2 22i c.7826-1G>C - Substitution Splice site - - - - TNXB_00027