LOVD - Variant listings for DSE

About this overview [Show]

Patient data (#0001873)
Patient ID Patient 2
Disease Musculocontractural EDS
Reference Schirwani et al., 2019
Template DNA
Technique CEP, SEQ
Remarks The variant is predicted by in silico analysis to be damaging at a highly conserved amino acid, but there is no functional evidence.
Ethnic origin Pakistani

Variant data
Allele Paternal (inferred)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 06
DNA change c.1763A>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.His588Arg
RNA change -
Re-site -
Frequency -
DB-ID DSE_00004

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) 06 c.1763A>G - Substitution Missense p.His588Arg - - - DSE_00004
+?/+? Paternal (inferred) 06 c.1763A>G - Substitution Missense p.His588Arg - - - DSE_00004