LOVD - Variant listings for COL3A1

About this overview [Show]

Patient data (#0001813)
Patient ID Patient 11
Disease Vascular EDS
Reference Busch et al., 2016
Template DNA
Technique Unknown
Remarks The patient also had three other female relatives who carried the variant and had a vEDS phenotype.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Pathogenic
Exon 16i
DNA change c.1050+1G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Splice site
Protein -
Legacy change -
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00165

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 16i c.1050+1G>A - Substitution Splice site - - - - - COL3A1_00165