LOVD - Variant listings for DSE

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Patient data (#0001874)
Patient ID Patient 1
Disease Musculocontractural EDS
Reference Lautrup et al., 2019
Template DNA
Technique SEQ
Remarks The patient's urine sample was analysed, showing a lack of dermatan sulfate dissacharide. The patient was born of consanguineous parents.
Ethnic origin Turkish

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
DNA change c.960T>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Nonsense
Protein p.Tyr320*
RNA change -
Re-site -
Frequency -
DB-ID DSE_00005

2 entries in DSE

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
+/+ Maternal (inferred) 05 c.960T>A - Substitution Nonsense p.Tyr320* - - - DSE_00005
+/+ Paternal (inferred) 05 c.960T>A - Substitution Nonsense p.Tyr320* - - - DSE_00005