LOVD - Variant listings for COL3A1

About this overview [Show]

Patient data (#0001812)
Patient ID Patient 7
Disease Vascular EDS
Reference Busch et al., 2016
Template DNA
Technique Unknown
Remarks The 22F patient presented with symptoms of vertebral aneurysm.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Probably pathogenic
Exon 34
DNA change c.2295_2312del   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect In-frame deletion
Protein p.Ile767_Pro772del
Legacy change Ile600_Pro605del
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00753

1 entry in COL3A1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
Legacy change Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
-/+? Unknown 34 c.2295_2312del - Deletion In-frame deletion p.Ile767_Pro772del Ile600_Pro605del - - - COL3A1_00753