LOVD - Variant listings for DSE

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Patient data (#0001876)
Patient ID Patient 18
Disease Musculocontractural EDS
Reference Ranza et al., 2017
Template DNA
Technique SEQ, WES
Remarks The patient initially had an unknown clinical diagnosis, and was reclassified due to the discovery of the variants.
Ethnic origin Moroccan

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 03
DNA change c.647delG   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect Frameshift
Protein p.Gly216Glufs*3
RNA change -
Re-site -
Frequency -
DB-ID DSE_00007

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) 03 c.647delG - Deletion Frameshift p.Gly216Glufs*3 - - - DSE_00007
+/+? Paternal (inferred) 03 c.647delG - Deletion Frameshift p.Gly216Glufs*3 - - - DSE_00007