LOVD - Variant listings for DSE

About this overview [Show]

Patient data (#0001872)
Patient ID Patient 1
Disease Musculocontractural EDS
Reference Schirwani et al., 2019
Template DNA
Technique SEQ, WES
Remarks The variant is presumed to be a true homozygote, but sequencing of the patient's parents was not feasible.
Ethnic origin Portuguese

Variant data
Allele Paternal (inferred)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 06
DNA change c.1150_1157del   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect Frameshift
Protein p.Pro384Trpfs*9
RNA change -
Re-site -
Frequency -
DB-ID DSE_00003

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.1150_1157del - Deletion Frameshift p.Pro384Trpfs*9 - - - DSE_00003
+?/+? Paternal (inferred) 06 c.1150_1157del - Deletion Frameshift p.Pro384Trpfs*9 - - - DSE_00003